ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8017-2A>G

dbSNP: rs1567180640
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000681719 SCV000843172 pathogenic not provided 2017-10-09 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002289955 SCV002580123 pathogenic Polycystic kidney disease, adult type 2022-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000681719 SCV002586954 pathogenic not provided 2022-04-22 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); This variant is associated with the following publications: (PMID: 22508176, 28502323, 31740684, 17582161, 30927425)
Gharavi Laboratory, Columbia University RCV000681719 SCV000809172 pathogenic not provided 2018-09-16 no assertion criteria provided research

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