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

dbSNP: rs2110104722

Total submissions: 5

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 (http://gnomad.broadinstitute.org). 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