ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg)

dbSNP: rs1555450920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000625657 SCV001139776 likely pathogenic Polycystic kidney disease, adult type 2019-05-28 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625657 SCV000746160 likely pathogenic Polycystic kidney disease, adult type 2017-10-13 no assertion criteria provided clinical testing

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