Submissions for variant NM_000051.4(ATM):c.5961T>G (p.Ser1987=)

dbSNP: rs1060504265

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465310	SCV000558298	likely benign	Ataxia-telangiectasia syndrome	2023-04-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575078	SCV000667902	likely benign	Hereditary cancer-predisposing syndrome	2016-03-22	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.
Color Diagnostics, LLC DBA Color Health	RCV000575078	SCV000687661	likely benign	Hereditary cancer-predisposing syndrome	2017-08-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589346	SCV000694311	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001598672	SCV001827657	benign	not provided	2015-07-06	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575078	SCV002537516	likely benign	Hereditary cancer-predisposing syndrome	2021-05-03	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004591336	SCV005081989	benign	Familial cancer of breast	2024-05-28	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.