ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) (rs397514731)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000054490 SCV000594272 pathogenic Ceroid lipofuscinosis, neuronal, 13 2016-05-25 criteria provided, single submitter clinical testing
OMIM RCV000054490 SCV000082968 pathogenic Ceroid lipofuscinosis, neuronal, 13 2013-04-01 no assertion criteria provided literature only

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