ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1892-7T>A

gnomAD frequency: 0.00210  dbSNP: rs779185109
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037647 SCV001201071 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing

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