ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro)

gnomAD frequency: 0.00001  dbSNP: rs1230641065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712588 SCV000843104 uncertain significance not provided 2019-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000712588 SCV001998851 uncertain significance not provided 2020-11-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005010722 SCV005638993 uncertain significance Polycystic kidney disease, adult type 2024-03-06 criteria provided, single submitter clinical testing

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