ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)

gnomAD frequency: 0.00257  dbSNP: rs143226202
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891981 SCV000315779 benign PKHD1-related disorder 2020-02-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Invitae RCV000860543 SCV001000625 benign Autosomal recessive polycystic kidney disease 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000860543 SCV001325835 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001589288 SCV001826881 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001589288 SCV004163603 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PKHD1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001589288 SCV002033811 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001589288 SCV002036489 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000860543 SCV002081053 benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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