Submissions for variant NM_000051.4(ATM):c.1608-3T>C

gnomAD frequency: 0.00003  dbSNP: rs774196176

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000220922	SCV000273720	likely benign	Hereditary cancer-predisposing syndrome	2019-10-31	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	RCV000538430	SCV000622272	likely benign	Ataxia-telangiectasia syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001705209	SCV000729483	likely benign	not provided	2020-09-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000220922	SCV000905480	likely benign	Hereditary cancer-predisposing syndrome	2015-07-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001804954	SCV002051149	uncertain significance	not specified	2021-12-16	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589928	SCV005084598	likely benign	Familial cancer of breast	2024-04-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.