ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1551A>G (p.Thr517=)

gnomAD frequency: 0.01428  dbSNP: rs34767467
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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 RCV000249949 SCV000310255 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550530 SCV000656128 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001668499 SCV001886352 benign not provided 2019-08-15 criteria provided, single submitter clinical testing

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