ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1234-10T>A

gnomAD frequency: 0.12902  dbSNP: rs4715272
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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) RCV000082527 SCV000114569 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082527 SCV000315770 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263218 SCV000464119 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.
Invitae RCV000263218 SCV001000448 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530445 SCV001745273 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001705793 SCV001882184 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530445 SCV002029999 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291928 SCV000592885 benign Polycystic kidney disease no assertion criteria provided clinical testing The c.1234-10T>A, p.? variant was identified in 15% of 18201 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. RCV000263218 SCV002083375 benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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