ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)

gnomAD frequency: 0.00001  dbSNP: rs770970810
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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 RCV001220350 SCV001392333 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-03-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145409 SCV003832807 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing

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