ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=)

gnomAD frequency: 0.00003  dbSNP: rs199869924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601102 SCV000716220 likely benign not specified 2017-02-28 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.
CeGaT Center for Human Genetics Tuebingen RCV000891731 SCV001500719 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442625 SCV001645577 likely benign Bethlem myopathy 1A 2023-10-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891731 SCV005261805 likely benign not provided criteria provided, single submitter not provided

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