ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)

dbSNP: rs752731569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671994 SCV000797045 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2018-01-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732483 SCV000860448 pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing

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