ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.411A>G (p.Glu137=)

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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 RCV002695894 SCV002995386 likely benign Neuronal ceroid lipofuscinosis 2023-04-05 criteria provided, single submitter clinical testing

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