ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup)

dbSNP: rs1220815256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669620 SCV000794391 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2017-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499165 SCV002812170 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-07-19 criteria provided, single submitter clinical testing

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