ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.90T>C (p.Ala30=)

gnomAD frequency: 0.00001  dbSNP: rs376382403
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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 RCV001460117 SCV001663979 likely benign Neuronal ceroid lipofuscinosis 2024-10-29 criteria provided, single submitter clinical testing

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