ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) (rs119455953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002760 SCV000022918 pathogenic Ceroid lipofuscinosis neuronal 2 1997-09-19 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000002760 SCV000091182 not provided Ceroid lipofuscinosis neuronal 2 no assertion provided not provided

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