ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.1140C>G (p.Ser380=)

dbSNP: rs143674429
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003581746 SCV001046065 likely benign Neuronal ceroid lipofuscinosis 13 2023-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000901682 SCV001770620 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing

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