ClinVar Miner

Submissions for variant NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) (rs386834015)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049994 SCV000487220 pathogenic Muscle eye brain disease 2016-10-28 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782031 SCV000920497 pathogenic not provided 2018-07-19 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049994 SCV000082403 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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