ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4179C>A (p.Ile1393=)

dbSNP: rs775688446
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223265 SCV000273841 likely benign Hereditary cancer-predisposing syndrome 2015-02-09 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 RCV000459167 SCV000558320 likely benign Ataxia-telangiectasia syndrome 2023-11-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000223265 SCV000682188 likely benign Hereditary cancer-predisposing syndrome 2016-06-13 criteria provided, single submitter clinical testing
GeneDx RCV001640341 SCV001856216 benign not provided 2015-05-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818519 SCV002065053 likely benign not specified 2017-08-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000223265 SCV002534590 likely benign Hereditary cancer-predisposing syndrome 2021-07-30 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001818519 SCV004243441 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589930 SCV005082829 benign Familial cancer of breast 2024-05-16 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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