ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)

gnomAD frequency: 0.00004  dbSNP: rs183898615
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042492 SCV001206174 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145274 SCV003833384 uncertain significance not provided 2021-08-10 criteria provided, single submitter clinical testing

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