ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.228+14C>A

gnomAD frequency: 0.00001  dbSNP: rs1845872918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127558 SCV002418848 likely benign Neuronal ceroid lipofuscinosis 2023-08-03 criteria provided, single submitter clinical testing

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