ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)

gnomAD frequency: 0.00005  dbSNP: rs145762096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000787003 SCV002775584 uncertain significance Polycystic kidney disease, adult type 2024-01-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000787003 SCV005919560 uncertain significance Polycystic kidney disease, adult type 2023-02-07 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000787003 SCV000925910 uncertain significance Polycystic kidney disease, adult type 2018-12-12 no assertion criteria provided clinical testing

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