ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) (rs386833655)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049615 SCV000486751 likely pathogenic Ceroid lipofuscinosis neuronal 1 2016-08-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731854 SCV000859710 pathogenic not provided 2018-03-02 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049615 SCV000082022 probable-pathogenic Ceroid lipofuscinosis neuronal 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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