ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)

gnomAD frequency: 0.00002  dbSNP: rs561804945
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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) RCV000724641 SCV000331808 uncertain significance not provided 2015-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000335355 SCV000535395 likely benign not specified 2016-12-27 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 RCV001475458 SCV001679648 likely benign Bethlem myopathy 1A 2023-12-01 criteria provided, single submitter clinical testing

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