ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11157-9C>G

gnomAD frequency: 0.00003  dbSNP: rs1191413154
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335527 SCV001528694 uncertain significance Polycystic kidney disease, adult type 2018-05-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001335527 SCV005638827 uncertain significance Polycystic kidney disease, adult type 2024-06-17 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV001335527 SCV005871192 uncertain significance Polycystic kidney disease, adult type 2024-01-01 criteria provided, single submitter clinical testing PM3, BP4

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