ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=)

dbSNP: rs35551395
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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 RCV000250958 SCV000310281 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000533861 SCV000656193 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001640530 SCV001861479 benign not provided 2018-10-11 criteria provided, single submitter clinical testing

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