ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2728C>A (p.Leu910Met)

dbSNP: rs1279068945
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196088 SCV001366543 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2019-05-06 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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