ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5769T>C (p.Ser1923=)

dbSNP: rs1060504280
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459706 SCV000558343 likely benign Ataxia-telangiectasia syndrome 2023-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024504 SCV001186532 likely benign Hereditary cancer-predisposing syndrome 2019-02-08 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194299 SCV001363723 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591348 SCV005082826 benign Familial cancer of breast 2024-05-24 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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