ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.834T>G (p.Ala278=)

gnomAD frequency: 0.01455  dbSNP: rs16886258
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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 RCV000243621 SCV000310288 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000529878 SCV000656201 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001689846 SCV001915036 benign not provided 2019-08-15 criteria provided, single submitter clinical testing

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