ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.779-25dup

dbSNP: rs5876252
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001647443 SCV001860055 benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788590 SCV002030002 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001788590 SCV004807380 benign Polycystic kidney disease 4 2024-03-26 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001574003 SCV001800675 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001574003 SCV001930488 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001832786 SCV002083389 benign Autosomal recessive polycystic kidney disease 2017-05-15 no assertion criteria provided clinical testing

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