ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1719del (p.His573fs) (rs386834017)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004196 SCV000024362 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) RCV000049998 SCV000082407 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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