ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.543T>C (p.Asp181=)

gnomAD frequency: 0.00010  dbSNP: rs898779231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614414 SCV000724483 likely benign not specified 2017-11-09 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.
Eurofins Ntd Llc (ga) RCV000730052 SCV000857761 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000730052 SCV001143276 likely benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001428235 SCV001630931 likely benign Bethlem myopathy 1A 2024-03-07 criteria provided, single submitter clinical testing

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