ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1336-17G>A

gnomAD frequency: 0.00106  dbSNP: rs185337381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244305 SCV000308162 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244305 SCV000529232 likely benign not specified 2018-01-02 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 RCV002058077 SCV002401944 benign Bethlem myopathy 1A 2025-01-29 criteria provided, single submitter clinical testing

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