ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2805G>T (p.Thr935=)

dbSNP: rs55934812
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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 RCV000221094 SCV000274974 likely benign Hereditary cancer-predisposing syndrome 2015-04-07 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 RCV000419582 SCV000512148 benign not specified 2015-05-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000538068 SCV000622363 likely benign Ataxia-telangiectasia syndrome 2024-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000419582 SCV000694236 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000221094 SCV001356462 likely benign Hereditary cancer-predisposing syndrome 2018-03-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000221094 SCV002532863 likely benign Hereditary cancer-predisposing syndrome 2022-02-01 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004589958 SCV005082724 benign Familial cancer of breast 2024-05-10 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. RCV000538068 SCV002076370 likely benign Ataxia-telangiectasia syndrome 2021-07-15 no assertion criteria provided clinical testing

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