ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.726A>G (p.Arg242=)

gnomAD frequency: 0.00001  dbSNP: rs753174925
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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 RCV001407515 SCV001609491 likely benign Neuronal ceroid lipofuscinosis 7 2023-10-13 criteria provided, single submitter clinical testing

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