ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) (rs45517932)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253664 SCV000315808 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000987715 SCV000629923 likely benign Autosomal recessive polycystic kidney disease 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000253664 SCV000700702 likely benign not specified 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000253664 SCV000729458 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000987715 SCV001137143 likely benign Autosomal recessive polycystic kidney disease 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000558453 SCV001154773 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987715 SCV001327544 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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