ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1767+8T>C (rs190659146)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176034 SCV000227621 benign not specified 2015-04-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176034 SCV000304075 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350538 SCV000452141 benign Bifunctional peroxisomal enzyme deficiency 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.
Illumina Clinical Services Laboratory,Illumina RCV000386369 SCV000452142 benign Perrault syndrome 1 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000176034 SCV000711498 benign not specified 2017-12-14 criteria provided, single submitter clinical testing c.1842+8T>C in intron 21 of HSD17B4: This variant is not expected to have clinic al significance because it is not located within the conserved splice consensus sequence. It has been identified in 4.3% (1330/30724) of South Asian chromosomes including 44 homozygotes by the Genome Aggregation Database (gnomAD, http://gno mad.broadinstitute.org; dbSNP rs190659146).
Invitae RCV001080069 SCV001118148 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2020-12-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676085 SCV000801821 benign not provided 2017-07-26 no assertion criteria provided clinical testing
Natera, Inc. RCV000350538 SCV001458673 benign Bifunctional peroxisomal enzyme deficiency 2020-09-16 no assertion criteria provided clinical testing

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