ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1230C>T (p.Tyr410=)

dbSNP: rs1057520928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703630 SCV000520057 likely benign not provided 2019-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003600376 SCV004548737 likely benign Neuronal ceroid lipofuscinosis 7 2023-03-21 criteria provided, single submitter clinical testing

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