Submissions for variant NM_000051.4(ATM):c.3219A>G (p.Val1073=)

gnomAD frequency: 0.00002  dbSNP: rs752849892

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163155	SCV000213672	likely benign	Hereditary cancer-predisposing syndrome	2015-01-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199132	SCV000252956	likely benign	Ataxia-telangiectasia syndrome	2024-01-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163155	SCV000682109	likely benign	Hereditary cancer-predisposing syndrome	2016-09-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311786	SCV001502091	likely benign	not provided	2020-12-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001311786	SCV001829882	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163155	SCV002535824	likely benign	Hereditary cancer-predisposing syndrome	2021-05-05	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003230422	SCV003929045	likely benign	not specified	2023-04-14	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003230422	SCV004027198	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589702	SCV005083888	benign	Familial cancer of breast	2024-05-14	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000163155	SCV002506594	likely benign	Hereditary cancer-predisposing syndrome	2022-03-22	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551387	SCV004718694	likely benign	ATM-related disorder	2019-06-11	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).