ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7065+5G>C

dbSNP: rs2544795023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002283333 SCV002571691 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV002283333 SCV005411214 uncertain significance not provided 2024-07-05 criteria provided, single submitter clinical testing PP3, PM2, PS1_supporting, PS4_supporting

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