ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.1973del (p.Pro658fs)

dbSNP: rs1720429890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001249097 SCV001422380 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005359997 SCV005912387 pathogenic Polycystic kidney disease 2 2022-01-05 criteria provided, single submitter clinical testing

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