ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3447T>C (p.Asn1149=)

dbSNP: rs763473729
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165081 SCV000215784 likely benign Hereditary cancer-predisposing syndrome 2014-07-21 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.
GeneDx RCV001704200 SCV000516559 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001248472 SCV001421960 likely benign Ataxia-telangiectasia syndrome 2024-01-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165081 SCV002536012 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004589764 SCV005083906 benign Familial cancer of breast 2024-05-14 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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