ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.699+16T>C

gnomAD frequency: 0.00001  dbSNP: rs201300686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703517 SCV000515259 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001703517 SCV002444503 benign not provided 2021-03-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244873 SCV002514896 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-12-05 criteria provided, single submitter clinical testing

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