Submissions for variant NM_000051.4(ATM):c.7302A>T (p.Thr2434=)

gnomAD frequency: 0.00001  dbSNP: rs752125292

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001176863	SCV001340935	likely benign	Hereditary cancer-predisposing syndrome	2018-12-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002068176	SCV002433634	likely benign	Ataxia-telangiectasia syndrome	2023-11-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001176863	SCV002670995	likely benign	Hereditary cancer-predisposing syndrome	2020-02-15	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.
Myriad Genetics, Inc.	RCV004590127	SCV005082163	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.