ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.828-4G>A

gnomAD frequency: 0.00004  dbSNP: rs371034011
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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
GeneDx RCV001697431 SCV000715319 likely benign not provided 2019-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000632727 SCV000753913 likely benign Neuronal ceroid lipofuscinosis 2024-12-09 criteria provided, single submitter clinical testing

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