ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)

gnomAD frequency: 0.52431  dbSNP: rs4715227
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082522 SCV000114564 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082522 SCV000315764 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376208 SCV000464024 benign Autosomal recessive polycystic kidney disease 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000376208 SCV001000017 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530468 SCV001745306 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001705789 SCV001838308 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530468 SCV002029983 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291894 SCV000592911 benign Polycystic kidney disease no assertion criteria provided clinical testing The c.11696A>G, p.Gln3899Arg variant was identified in 55.5% of 67337 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).
Natera, Inc. RCV000376208 SCV002075472 benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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