ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1746C>G (p.Phe582Leu)

dbSNP: rs145629926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562559 SCV000668040 likely benign Hereditary cancer-predisposing syndrome 2017-01-04 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 RCV001520425 SCV001729519 benign Ataxia-telangiectasia syndrome 2020-10-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592735 SCV005083376 likely benign Familial cancer of breast 2024-05-01 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

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