ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro)

dbSNP: rs1771471295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987792 SCV004804850 uncertain significance Polycystic kidney disease 4 2024-03-17 criteria provided, single submitter research
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV001175222 SCV001338746 likely pathogenic Autosomal recessive polycystic kidney disease no assertion criteria provided research

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