ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2952A>G (p.Gln984=)

dbSNP: rs1476499901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361279 SCV001557248 likely benign Ataxia-telangiectasia syndrome 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438835 SCV002750158 likely benign Hereditary cancer-predisposing syndrome 2022-01-17 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.
Myriad Genetics, Inc. RCV004590351 SCV005084895 benign Familial cancer of breast 2024-05-13 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.
Natera, Inc. RCV001361279 SCV002076536 uncertain significance Ataxia-telangiectasia syndrome 2020-03-17 no assertion criteria provided clinical testing

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