ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys)

gnomAD frequency: 0.00003  dbSNP: rs978290681
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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 RCV001915824 SCV002177852 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146337 SCV003831177 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing

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