ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup)

dbSNP: rs2091618795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575466 SCV001802466 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing In-frame duplication of 2 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22383692)
Fulgent Genetics, Fulgent Genetics RCV002488401 SCV002787843 uncertain significance Polycystic kidney disease, adult type 2021-12-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002488401 SCV006056821 uncertain significance Polycystic kidney disease, adult type 2024-07-23 criteria provided, single submitter clinical testing

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