ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn)

gnomAD frequency: 0.00001  dbSNP: rs772161963
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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 RCV000804321 SCV000944225 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001759536 SCV002005041 uncertain significance not provided 2024-09-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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