ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr)

dbSNP: rs1800745257
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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 RCV001331703 SCV001523801 uncertain significance Polycystic kidney disease 4 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001533186 SCV001746632 uncertain significance Autosomal recessive polycystic kidney disease 2021-01-04 criteria provided, single submitter clinical testing

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