ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.4345C>T (p.Gln1449Ter)

dbSNP: rs1301404126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171705 SCV001334531 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV001507259 SCV001481955 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-01-01 no assertion criteria provided clinical testing

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