ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7974T>C (p.Asn2658=)

gnomAD frequency: 0.00001  dbSNP: rs777548685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580966 SCV000682447 likely benign Hereditary cancer-predisposing syndrome 2015-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580966 SCV001189507 likely benign Hereditary cancer-predisposing syndrome 2019-09-15 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 RCV001418806 SCV001621045 likely benign Ataxia-telangiectasia syndrome 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000465820 SCV001900693 likely benign not provided 2019-07-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591376 SCV005085375 benign Familial cancer of breast 2024-06-18 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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