ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2055T>C (p.Ser685=)

gnomAD frequency: 0.00003  dbSNP: rs780620827
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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 RCV001400135 SCV001601938 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424253 SCV004159773 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7

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