ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.270T>A (p.Ala90=)

gnomAD frequency: 0.00001  dbSNP: rs754809138
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 RCV000640472 SCV000762064 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001619818 SCV001846546 likely benign not provided 2020-08-06 criteria provided, single submitter clinical testing

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