ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)

gnomAD frequency: 0.00019  dbSNP: rs149845431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724103 SCV000228614 uncertain significance not provided 2014-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000176857 SCV000529576 likely benign not specified 2016-07-22 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 RCV001088613 SCV001052622 likely benign Bethlem myopathy 1A 2024-10-29 criteria provided, single submitter clinical testing

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