ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.242G>A (p.Gly81Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003234857 SCV003932827 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2023-01-01 criteria provided, single submitter clinical testing

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