ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6378A>G (p.Glu2126=)

dbSNP: rs1060504297
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459564 SCV000558403 likely benign Ataxia-telangiectasia syndrome 2023-04-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775803 SCV000910256 likely benign Hereditary cancer-predisposing syndrome 2018-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775803 SCV001187334 likely benign Hereditary cancer-predisposing syndrome 2015-11-28 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479131 SCV004222871 likely benign not specified 2023-11-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591380 SCV005083784 benign Familial cancer of breast 2024-06-06 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.

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