ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.652+1G>A (rs386834035)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050018 SCV000793977 likely pathogenic Muscle eye brain disease 2017-09-05 criteria provided, single submitter clinical testing
OMIM RCV000004206 SCV000024372 pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2008-01-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050018 SCV000082427 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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