ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1533A>G (p.Val511=)

dbSNP: rs2148836761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585418 SCV001819324 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120643 SCV003789430 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-25 criteria provided, single submitter clinical testing

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