ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.303C>A (p.Asn101Lys)

gnomAD frequency: 0.00073  dbSNP: rs139371621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489187 SCV000576921 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000489187 SCV001085427 likely benign not provided 2023-10-29 criteria provided, single submitter clinical testing

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