ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)

dbSNP: rs554813030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV001815627 SCV002062079 likely pathogenic Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 criteria provided, single submitter clinical testing

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