ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=)

gnomAD frequency: 0.00004  dbSNP: rs761216954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222523 SCV001394623 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001712886 SCV001946117 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing

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