ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1892-8_1892-6del

gnomAD frequency: 0.10881  dbSNP: rs199713791
Minimum review status: Collection method:
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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 RCV000528023 SCV000656132 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001644665 SCV001858374 benign not provided 2019-09-30 criteria provided, single submitter clinical testing

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