ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.234C>T (p.Asp78=)

gnomAD frequency: 0.29769  dbSNP: rs9474143
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082538 SCV000114580 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082538 SCV000315788 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407027 SCV000464130 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 RCV000407027 SCV001000259 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530460 SCV001745297 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001711262 SCV001946615 benign not provided 2019-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21790888, 25153916)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291926 SCV000592882 benign Polycystic kidney disease no assertion criteria provided clinical testing The c.234C>T, p.Asp78Asp variant was identified in 27.44% of 34517 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. RCV000407027 SCV002083420 benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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