ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) (rs104894681)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000360542 SCV000345061 pathogenic not provided 2017-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763056 SCV000893537 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000004441 SCV000024614 pathogenic Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 2001-12-01 no assertion criteria provided literature only

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