ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)

gnomAD frequency: 0.00041  dbSNP: rs147652186
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000177523 SCV000195465 likely benign not specified 2015-08-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724024 SCV000229406 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301172 SCV000411674 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000724024 SCV000526963 likely benign not provided 2018-11-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25167861)
CeGaT Center for Human Genetics Tuebingen RCV000724024 SCV000892249 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing WDR62: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000724024 SCV001042514 benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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