ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5005+8A>G

gnomAD frequency: 0.00002  dbSNP: rs1204604787
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549358 SCV000622554 likely benign Ataxia-telangiectasia syndrome 2023-11-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000582015 SCV000687599 likely benign Hereditary cancer-predisposing syndrome 2016-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000614079 SCV000723464 likely benign not specified 2017-10-03 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000614079 SCV002548102 uncertain significance not specified 2022-05-13 criteria provided, single submitter clinical testing

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