ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2016C>T (p.Asp672=)

gnomAD frequency: 0.00170  dbSNP: rs114968951
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175022 SCV000226445 benign not specified 2014-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000959548 SCV000727921 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000959548 SCV001106461 benign not provided 2024-06-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175022 SCV002065942 likely benign not specified 2020-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243848 SCV002514912 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-12-05 criteria provided, single submitter clinical testing

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