ClinVar Miner

Submissions for variant NM_001243766.1(POMGNT1):c.1869+7del (rs386834022)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050004 SCV000220820 likely pathogenic Muscle eye brain disease 2014-10-20 criteria provided, single submitter literature only
OMIM RCV000004198 SCV000024364 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 2001-11-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050004 SCV000082413 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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