Submissions for variant NM_000051.4(ATM):c.6003A>G (p.Leu2001=)

dbSNP: rs1057523413

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000444149	SCV000531874	likely benign	not specified	2016-09-13	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	RCV002522510	SCV001087977	likely benign	Ataxia-telangiectasia syndrome	2022-08-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001024795	SCV001186875	likely benign	Hereditary cancer-predisposing syndrome	2019-10-07	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.	RCV004591256	SCV005082869	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.