ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472454 SCV004202214 likely pathogenic Polycystic kidney disease 4 2023-11-14 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003472454 SCV004806493 uncertain significance Polycystic kidney disease 4 2024-03-26 criteria provided, single submitter clinical testing

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