Submissions for variant NM_000051.4(ATM):c.4518G>A (p.Val1506=)

gnomAD frequency: 0.00001  dbSNP: rs1057524110

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435759	SCV000534584	likely benign	not specified	2018-02-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000558268	SCV000622509	likely benign	Ataxia-telangiectasia syndrome	2024-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001022619	SCV001184377	likely benign	Hereditary cancer-predisposing syndrome	2018-07-25	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	RCV001022619	SCV001735490	likely benign	Hereditary cancer-predisposing syndrome	2020-11-23	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004591267	SCV005082961	benign	Familial cancer of breast	2024-05-20	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.