ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) (rs386833631)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049590 SCV000220645 likely pathogenic Ceroid lipofuscinosis neuronal 1 2014-08-28 criteria provided, single submitter literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049590 SCV000081997 probable-pathogenic Ceroid lipofuscinosis neuronal 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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