ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)

dbSNP: rs753811189
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV000576484 SCV000660444 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I no assertion criteria provided clinical testing This is detected in trans with the pathogenic variant NM_024301.4:c.826C>A .

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