ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) (rs28937905)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004449 SCV000800282 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2018-05-30 criteria provided, single submitter clinical testing
OMIM RCV000004449 SCV000024622 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2004-01-01 no assertion criteria provided literature only

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