ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.276C>T (p.Phe92=)

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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 RCV003030355 SCV003332283 likely benign Neuronal ceroid lipofuscinosis 2024-10-15 criteria provided, single submitter clinical testing

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