ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.213+1G>C

dbSNP: rs797045136
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000190878 SCV000245750 pathogenic Neuronal ceroid lipofuscinosis 13 2014-11-04 no assertion criteria provided literature only

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