ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1643-39G>A

gnomAD frequency: 0.07203  dbSNP: rs2301735
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000147921 SCV000306506 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000833253 SCV000975015 benign not provided 2018-06-16 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.
Genome-Nilou Lab RCV002243816 SCV002514909 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833253 SCV005307978 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147921 SCV000195414 likely benign not specified no assertion criteria provided clinical testing

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