ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.957-2A>G

dbSNP: rs1754957238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001261955 SCV001439307 likely pathogenic Microcephaly 18, primary, autosomal dominant 2019-07-25 criteria provided, single submitter clinical testing

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