ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1584T>C (p.Thr528=)

dbSNP: rs864622408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012289 SCV001172722 likely benign Hereditary cancer-predisposing syndrome 2015-12-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001465734 SCV001669726 likely benign Ataxia-telangiectasia syndrome 2015-10-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001012289 SCV002532738 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-06 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004589884 SCV005084208 benign Familial cancer of breast 2024-04-29 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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