ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.481_502del (p.Gly161fs)

dbSNP: rs1553923513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508048 SCV000604828 pathogenic not specified 2016-12-05 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985200 SCV001133225 likely pathogenic Polycystic kidney disease 2 2019-09-26 no assertion criteria provided clinical testing

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