ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly)

gnomAD frequency: 0.00003  dbSNP: rs1314283337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007853 SCV001167551 uncertain significance Flexion contracture no assertion criteria provided research
OMIM RCV003160165 SCV003853596 pathogenic Congenital myopathy 20 2023-04-07 no assertion criteria provided literature only

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