ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002619754 SCV003503127 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-05-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003143508 SCV003831225 uncertain significance not provided 2022-12-13 criteria provided, single submitter clinical testing

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