ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.840A>G (p.Leu280=)

gnomAD frequency: 0.00001  dbSNP: rs199982542
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 RCV001426888 SCV001629549 likely benign Neuronal ceroid lipofuscinosis 7 2023-12-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711126 SCV005256186 likely benign not provided criteria provided, single submitter not provided

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