ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.342C>T (p.Ser114=)

gnomAD frequency: 0.00005  dbSNP: rs201905099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442476 SCV000518097 likely benign not specified 2016-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000864957 SCV001005849 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-02 criteria provided, single submitter clinical testing

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