ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4797A>C (p.Ser1599=)

dbSNP: rs1371876868
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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 RCV000562359 SCV000665538 likely benign Hereditary cancer-predisposing syndrome 2016-06-02 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.
Sema4, Sema4 RCV000562359 SCV002535387 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003605641 SCV004447219 likely benign Ataxia-telangiectasia syndrome 2023-03-21 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592676 SCV005084315 benign Familial cancer of breast 2024-05-21 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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