ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.87C>T (p.Val29=)

gnomAD frequency: 0.00001  dbSNP: rs753737213
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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 RCV001444169 SCV001647165 likely benign Neuronal ceroid lipofuscinosis 2024-03-10 criteria provided, single submitter clinical testing

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