ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)

gnomAD frequency: 0.00026  dbSNP: rs564570407
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516279 SCV000614523 uncertain significance not specified 2017-07-18 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254226 SCV001430168 likely benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573533 SCV001799544 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573533 SCV001972742 likely benign not provided no assertion criteria provided clinical testing

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