Submissions for variant NM_000051.4(ATM):c.4492T>C (p.Leu1498=)

gnomAD frequency: 0.00001  dbSNP: rs748949478

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163758	SCV000214335	likely benign	Hereditary cancer-predisposing syndrome	2014-10-08	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	RCV001085061	SCV000259889	likely benign	Ataxia-telangiectasia syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163758	SCV000682211	likely benign	Hereditary cancer-predisposing syndrome	2017-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000761806	SCV000892005	uncertain significance	not provided	2018-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000761806	SCV001944106	benign	not provided	2015-09-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163758	SCV002534845	likely benign	Hereditary cancer-predisposing syndrome	2021-04-30	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002265641	SCV002548091	likely benign	not specified	2022-05-05	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492680	SCV004240724	likely benign	Breast and/or ovarian cancer	2022-07-20	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589727	SCV005085781	benign	Familial cancer of breast	2024-05-20	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.
PreventionGenetics, part of Exact Sciences	RCV004551410	SCV004759858	likely benign	ATM-related disorder	2019-11-01	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).