ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2334-6C>A

gnomAD frequency: 0.00461  dbSNP: rs138928852
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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 RCV000147935 SCV000195428 benign not specified 2015-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000710283 SCV000515260 benign not provided 2018-04-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710283 SCV000616286 benign not provided 2018-04-18 criteria provided, single submitter clinical testing
Invitae RCV000710283 SCV001112701 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001125144 SCV001284181 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV001125144 SCV002514920 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-12-05 criteria provided, single submitter clinical testing

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