ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro)

dbSNP: rs2150414704
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001533151 SCV001745896 uncertain significance Polycystic kidney disease 4 2021-07-08 criteria provided, single submitter clinical testing The detected change has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or in the literature. In bioinformatics, the change is classified as "probably disease-causing". It has been detected together with a large deletion (exon 39-41) of the PKHD1 gene, but without segregation analysis for compound status. The variant is currently to be regarded as a "variant of uncertain significance" (ACMG criteria).

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