ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)

dbSNP: rs1060499718
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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 RCV000449570 SCV002813642 pathogenic Polycystic kidney disease, adult type 2022-03-18 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000449570 SCV000537825 pathogenic Polycystic kidney disease, adult type no assertion criteria provided clinical testing

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