ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.669del (p.Trp224fs)

dbSNP: rs1599760058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV001009331 SCV001162775 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-02-24 criteria provided, single submitter research This variant is detected in sibship presented with microcephaly, born to a consanguineous parents. The variant is a frameshift deletion in the exon 6 of the WDR62 gene. Variation in this gene is reported to cause microcephaly.

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