ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1416C>T (p.Ile472=)

gnomAD frequency: 0.00001  dbSNP: rs1473670776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841444 SCV000983411 likely benign not provided 2018-04-05 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.
Invitae RCV001497698 SCV001702435 likely benign Neuronal ceroid lipofuscinosis 7 2023-04-14 criteria provided, single submitter clinical testing

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