ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.*5G>A

gnomAD frequency: 0.00745  dbSNP: rs61740165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147908 SCV000195399 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000154148 SCV000203814 benign not specified 2014-04-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000147908 SCV001284416 likely benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001711415 SCV001941475 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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