ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)

gnomAD frequency: 0.00005  dbSNP: rs373455368
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791855 SCV000931121 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000791855 SCV002782137 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-12-09 criteria provided, single submitter clinical testing

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