ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1461G>A (p.Leu487=)

gnomAD frequency: 0.00001  dbSNP: rs1736221866
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Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132824 SCV002431589 likely benign Neuronal ceroid lipofuscinosis 7 2022-12-21 criteria provided, single submitter clinical testing

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