ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.789G>C (p.Trp263Cys) (rs28940569)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090293 SCV001245744 pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
OMIM RCV000002937 SCV000023095 pathogenic Neuronal ceroid lipofuscinosis 8 2004-04-01 no assertion criteria provided literature only

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