ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=)

gnomAD frequency: 0.00003  dbSNP: rs375094592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001424283 SCV001626878 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001555923 SCV001777416 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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