ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1103-18A>G

gnomAD frequency: 0.00002  dbSNP: rs748197230
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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 RCV002151239 SCV002465150 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-31 criteria provided, single submitter clinical testing

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