ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer)

dbSNP: rs886041004
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hehr Laboratory, Center for Human Genetics Regensburg RCV000258204 SCV000328439 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2016-08-17 no assertion criteria provided clinical testing

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