Submissions for variant NM_000051.4(ATM):c.507T>C (p.Ser169=)

gnomAD frequency: 0.00001  dbSNP: rs758619186

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163111	SCV000213621	likely benign	Hereditary cancer-predisposing syndrome	2014-06-19	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	RCV000228014	SCV000282978	likely benign	Ataxia-telangiectasia syndrome	2024-01-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000500341	SCV000593475	likely benign	not specified	2016-12-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163111	SCV000903076	likely benign	Hereditary cancer-predisposing syndrome	2016-04-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001711435	SCV001939417	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798569	SCV002042658	likely benign	Breast and/or ovarian cancer	2020-05-21	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163111	SCV002527856	likely benign	Hereditary cancer-predisposing syndrome	2021-10-12	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000500341	SCV003844215	likely benign	not specified	2023-02-25	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589699	SCV005084052	benign	Familial cancer of breast	2024-04-19	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001711435	SCV005213505	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV001711435	SCV005412448	uncertain significance	not provided	2024-01-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001711435	SCV002034501	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001711435	SCV002037339	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551385	SCV004721816	likely benign	ATM-related disorder	2024-02-28	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).