ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.984C>T (p.Pro328=)

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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 RCV005193629 SCV005824852 likely benign Neuronal ceroid lipofuscinosis 2024-05-27 criteria provided, single submitter clinical testing

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