ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)

dbSNP: rs397514733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000054492 SCV004805767 uncertain significance Neuronal ceroid lipofuscinosis 13 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV000054492 SCV000082970 pathogenic Neuronal ceroid lipofuscinosis 13 2013-04-01 no assertion criteria provided literature only

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