Submissions for variant NM_000051.4(ATM):c.7116T>C (p.Asp2372=)

gnomAD frequency: 0.00001  dbSNP: rs3218675

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000167261	SCV000218102	likely benign	Hereditary cancer-predisposing syndrome	2014-12-11	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	RCV000232936	SCV000283037	likely benign	Ataxia-telangiectasia syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000167261	SCV000682388	likely benign	Hereditary cancer-predisposing syndrome	2016-07-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001328350	SCV001519438	likely benign	not specified	2021-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001711450	SCV001941544	benign	not provided	2015-08-26	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798600	SCV002042860	likely benign	Breast and/or ovarian cancer	2021-01-05	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589821	SCV005084534	benign	Familial cancer of breast	2024-06-13	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.