ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5608A>G (p.Asn1870Asp)

dbSNP: rs2544811140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002464899 SCV002759169 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28973148, 22508176)

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