ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=)

gnomAD frequency: 0.00001  dbSNP: rs145136426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432448 SCV000528152 likely benign not specified 2016-06-16 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 RCV000871991 SCV001013736 likely benign Bethlem myopathy 1A 2023-12-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711071 SCV005261791 likely benign not provided criteria provided, single submitter not provided

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