ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.27A>G (p.Glu9=)

gnomAD frequency: 0.00001  dbSNP: rs1216544839
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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 RCV001492386 SCV001696996 likely benign Neuronal ceroid lipofuscinosis 7 2020-11-05 criteria provided, single submitter clinical testing

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