ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)

dbSNP: rs28937902
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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 RCV003460428 SCV004197454 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2022-03-31 criteria provided, single submitter clinical testing
OMIM RCV000004446 SCV000024619 pathogenic Muscular dystrophy-dystroglycanopathy type B5 2003-03-25 no assertion criteria provided literature only

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