ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)

gnomAD frequency: 0.52715  dbSNP: rs9381994
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082526 SCV000114568 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082526 SCV000315769 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325223 SCV000464020 benign Autosomal recessive polycystic kidney disease 2018-01-13 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.
Invitae RCV000325223 SCV001000016 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530466 SCV001745304 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001705792 SCV001890130 benign not provided 2019-08-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28509106)
Genome-Nilou Lab RCV001530466 SCV002029982 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001530466 SCV002812481 benign Polycystic kidney disease 4 2021-10-25 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291895 SCV000592912 benign Polycystic kidney disease no assertion criteria provided clinical testing Thec.12143A>G, p.Gln4048Arg variant was identified in 56.3% of 68262 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. RCV000325223 SCV002075455 benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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