ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11713-1G>A

dbSNP: rs867092741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508100 SCV000604811 pathogenic not specified 2017-03-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518635 SCV000614471 pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254257 SCV001430297 pathogenic Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
GeneDx RCV000518635 SCV003837494 likely pathogenic not provided 2022-08-29 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, 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); This variant is associated with the following publications: (PMID: 31740684, 33437033, 23300259, Kataoka2022[paper])

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