ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.899T>A (p.Val300Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005028697 SCV005647981 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 2024-04-23 criteria provided, single submitter clinical testing

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