ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.750C>T (p.Thr250=)

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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 RCV002974980 SCV003281471 likely benign Neuronal ceroid lipofuscinosis 2023-01-18 criteria provided, single submitter clinical testing

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