ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8152-17G>A

gnomAD frequency: 0.00001  dbSNP: rs368924012
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429938 SCV000516716 likely benign not specified 2017-07-07 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.
Color Diagnostics, LLC DBA Color Health RCV000580163 SCV000682460 likely benign Hereditary cancer-predisposing syndrome 2015-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061633 SCV002352929 likely benign Ataxia-telangiectasia syndrome 2024-01-12 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591168 SCV005083585 likely benign Familial cancer of breast 2024-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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