• ACMG Classification Rules Specified for ATM🔍
• Gene|Disease Validity Standard Operating Procedures ...🔍
• Questions and Answers🔍
• Rett_AS guidelines summary document_v11🔍
• Accessing ClinGen Data🔍
• Gene Clinical Validity Curation Process🔍
• Introduction and Motivation🔍

ACMG Classification Rules Specified for ATM - ClinGen

PVS1_Variable. PVS1_O_Variable. Null variant in a gene where loss of function is a known mechanism of disease. •. Per ATM Exon Map and ATM PVS1 Guide o PVS1: ...

Gene-Disease Validity Standard Operating Procedures ... - ClinGen

Please see guidelines here. ▫ Publication: Thaxton et al, 2022 PMID: 35754516. ○ Guidance on disease naming can be found on the Disease Naming Advisory ...

Questions and Answers - ClinGen

phenotype category to use? • There is currently no specific ... the subsequent guidance on reporting is asking people not to IGNORE.

Rett_AS guidelines summary document_v11 - ClinGen

PVS1: “Null variant (nonsense, frameshift, canonical ±1 or 2 splice sites, initiation codon, single or multi-exon deletion) in a gene where loss of function is ...

Accessing ClinGen Data - APIs and Streaming Data

ClinVar, MANE, dbSNP, gnomAD, REVEL, CADD, M-CAP, S-CAP, MyVariant ... • Uses a set of defined rules on what requests are valid and which.

Gene Clinical Validity Curation Process - ClinGen

Further information on the use of the semidominant MOI can be found in Appendix C. ... gene page on the gnomAD website. In general, if ... below for more guidance ...

Introduction and Motivation - ClinGen

data from gnomAD version 4. X. X. X. X. X. 1.1.2 Collaborate with ... 2.1.2 Co-host a series of ELSIhub conversations about each use case ...