ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.960C>T (p.Ala320=)

gnomAD frequency: 0.00001  dbSNP: rs376954943
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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 RCV001419883 SCV001622150 likely benign Neuronal ceroid lipofuscinosis 7 2023-12-28 criteria provided, single submitter clinical testing

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