ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)

gnomAD frequency: 0.00501  dbSNP: rs35292916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254078 SCV000310293 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000528610 SCV000656215 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651183 SCV001868029 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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