ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2124+19dup

dbSNP: rs35211268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486405 SCV000568011 likely benign not specified 2016-09-21 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 RCV000579825 SCV000682027 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056750 SCV002382095 benign Ataxia-telangiectasia syndrome 2024-01-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000579825 SCV002534099 likely benign Hereditary cancer-predisposing syndrome 2020-11-13 criteria provided, single submitter curation

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