ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2559A>T (p.Ser853=)

dbSNP: rs2081307609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194271 SCV001363665 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Invitae RCV001407913 SCV001609899 likely benign Ataxia-telangiectasia syndrome 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429853 SCV002743047 likely benign Hereditary cancer-predisposing syndrome 2020-08-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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