ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) (rs386833646)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049605 SCV000800709 uncertain significance Ceroid lipofuscinosis neuronal 1 2018-05-18 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049605 SCV000082012 probable-pathogenic Ceroid lipofuscinosis neuronal 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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