ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7065+9C>T

gnomAD frequency: 0.00004  dbSNP: rs765688834
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095584 SCV001251218 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PP3, PP4

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