ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.24T>C (p.Ser8=)

dbSNP: rs2149008674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134797 SCV002416525 likely benign Neuronal ceroid lipofuscinosis 7 2021-09-15 criteria provided, single submitter clinical testing

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