ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2972-15G>A

gnomAD frequency: 0.00003  dbSNP: rs1014003547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000601614 SCV000745381 likely benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV002066915 SCV002344814 likely benign not provided 2022-08-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601614 SCV000733881 likely benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations no assertion criteria provided clinical testing

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