ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)

gnomAD frequency: 0.00077  dbSNP: rs139460397
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723848 SCV000203809 uncertain significance not provided 2014-02-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000154145 SCV000597954 uncertain significance not specified 2016-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000723848 SCV000713905 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Invitae RCV000723848 SCV001656137 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000723848 SCV001712985 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003137666 SCV003823723 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-03-27 criteria provided, single submitter clinical testing

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