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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