Submissions for variant NM_144670.6(A2ML1):c.2841G>A (p.Thr947=)

gnomAD frequency: 0.00029  dbSNP: rs201562692

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233753	SCV000291406	likely benign	not provided	2025-01-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001293507	SCV001482094	benign	not specified	2021-02-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001293507	SCV002751758	likely benign	not specified	2022-05-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000233753	SCV004134393	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	A2ML1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003955373	SCV004767080	likely benign	A2ML1-related disorder	2023-10-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).