ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) (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 - University of Regensburg RCV000258204 SCV000328439 likely pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2016-08-17 no assertion criteria provided clinical testing

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