ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145692 SCV003833385 uncertain significance not provided 2020-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778850 SCV004568629 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-03-16 criteria provided, single submitter clinical testing

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