ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1056C>T (p.Arg352=) (rs886038682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668941 SCV000793623 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-08-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248317 SCV000314262 likely benign not specified criteria provided, single submitter clinical testing

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