ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1434C>G (p.Phe478Leu)

gnomAD frequency: 0.00001  dbSNP: rs542178534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504435 SCV000597967 likely benign not specified 2017-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000504435 SCV000725501 likely benign not specified 2017-12-12 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 RCV002524337 SCV003501549 benign not provided 2022-04-16 criteria provided, single submitter clinical testing

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