ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2193G>T (p.Pro731=)

gnomAD frequency: 0.00041  dbSNP: rs768813212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562486 SCV001785257 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501907 SCV002802360 likely benign Polycystic kidney disease, adult type 2021-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001562486 SCV003917463 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing PKD1: BP4, BP7

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