ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile)

gnomAD frequency: 0.00003  dbSNP: rs750076336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281263 SCV001425187 other Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV001281263 SCV005641083 uncertain significance Polycystic kidney disease, adult type 2024-05-31 criteria provided, single submitter clinical testing

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