ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7448C>T (p.Ala2483Val)

gnomAD frequency: 0.00012  dbSNP: rs759448663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623914 SCV000742951 uncertain significance Inborn genetic diseases 2017-09-20 criteria provided, single submitter clinical testing
GeneDx RCV001756027 SCV001997737 uncertain significance not provided 2020-01-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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