Submissions for variant NM_000051.4(ATM):c.7620C>A (p.Val2540=)

gnomAD frequency: 0.00001  dbSNP: rs863224298

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000198887	SCV000252982	likely benign	Ataxia-telangiectasia syndrome	2023-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000218293	SCV000276284	likely benign	Hereditary cancer-predisposing syndrome	2015-06-08	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.
Color Diagnostics, LLC DBA Color Health	RCV000218293	SCV001339686	likely benign	Hereditary cancer-predisposing syndrome	2019-04-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001594869	SCV001829857	benign	not provided	2015-07-13	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589861	SCV005085671	benign	Familial cancer of breast	2024-06-14	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.
CeGaT Center for Human Genetics Tuebingen	RCV001594869	SCV005330049	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ATM: BP4, BP7