ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)

dbSNP: rs104894684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000004456 SCV005057803 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-11-25 criteria provided, single submitter clinical testing
OMIM RCV000004456 SCV000024629 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2004-05-01 no assertion criteria provided literature only

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