ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=)

gnomAD frequency: 0.00002  dbSNP: rs771602562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601028 SCV000725414 likely benign not specified 2017-12-06 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 RCV000983188 SCV001131208 likely benign Bethlem myopathy 1A 2019-01-09 criteria provided, single submitter clinical testing

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