ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.446G>T (p.Gly149Val)

dbSNP: rs797045137
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000190882 SCV000245756 pathogenic Neuronal ceroid lipofuscinosis 10 2014-11-11 no assertion criteria provided literature only

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