ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=)

gnomAD frequency: 0.00004  dbSNP: rs755236045
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941631 SCV001087524 likely benign Neuronal ceroid lipofuscinosis 7 2023-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272732 SCV001454990 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-01-24 no assertion criteria provided clinical testing

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