ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs)

dbSNP: rs1596527744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001029931 SCV005638224 pathogenic Polycystic kidney disease, adult type 2024-04-17 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029931 SCV001192727 likely pathogenic Polycystic kidney disease, adult type 2019-11-06 no assertion criteria provided clinical testing

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