ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.710-2A>G

dbSNP: rs2110104722
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703398 SCV002569591 likely pathogenic not provided 2022-03-03 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Reported to segregate in a family with polycystic kidney disease in published literature (Veldhuisen et al., 1997); however, clinical and segregation data were limited; This variant is associated with the following publications: (PMID: 10411676, 11438989, 9326320)
Athena Diagnostics RCV001703398 SCV002771631 pathogenic not provided 2021-10-06 criteria provided, single submitter clinical testing This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. This variant has not been reported in large, multi-ethnic general populations ( This variant has been identified in at least one individual with clinical features associated with this gene.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703398 SCV001929168 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001703398 SCV001951664 pathogenic not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001703398 SCV002035727 pathogenic not provided no assertion criteria provided clinical testing

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