ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1234-1G>A

dbSNP: rs2145706114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546312 SCV001765808 likely pathogenic not provided 2023-09-12 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001780405 SCV002020902 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-07-21 criteria provided, single submitter clinical testing

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