ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1234-9T>C

gnomAD frequency: 0.00038  dbSNP: rs200707468
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594972 SCV000707148 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Invitae RCV001087022 SCV001068892 likely benign Autosomal recessive polycystic kidney disease 2023-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001087022 SCV001463517 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-08 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000594972 SCV002034225 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000594972 SCV002035492 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000594972 SCV002038122 likely benign not provided no assertion criteria provided clinical testing

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