ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)

dbSNP: rs28937904
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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 RCV003466809 SCV004197423 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-06-06 criteria provided, single submitter clinical testing
OMIM RCV000004448 SCV000024621 pathogenic Muscular dystrophy-dystroglycanopathy type B5 2004-02-01 no assertion criteria provided literature only

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