ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.1033_1034dup (p.Asn345fs) (rs1569112355)

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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 RCV000681481 SCV000808931 likely pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 2016-01-09 no assertion criteria provided clinical testing

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