ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.199-11T>C

gnomAD frequency: 0.00013  dbSNP: rs750871697
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
GeneDx RCV001719096 SCV000729352 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064367 SCV002395055 likely benign Neuronal ceroid lipofuscinosis 7 2024-12-10 criteria provided, single submitter clinical testing

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