ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.357C>T (p.Cys119=)

dbSNP: rs1553950874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596886 SCV000702004 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062007 SCV002452568 likely benign Neuronal ceroid lipofuscinosis 7 2023-02-16 criteria provided, single submitter clinical testing

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