ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.715-13C>T

gnomAD frequency: 0.00213  dbSNP: rs185869017
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218496 SCV000269168 benign not specified 2015-07-20 criteria provided, single submitter clinical testing 790-13C>T in intron 10 of HSD17B4: This variant is not expected to have clinical significance because it has been identified in 0.57% (59/10406) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs185869017).
Illumina Laboratory Services, Illumina RCV001152100 SCV001313307 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001152101 SCV001313308 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001711991 SCV001939732 benign not provided 2019-03-25 criteria provided, single submitter clinical testing
Invitae RCV002057071 SCV002452746 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-30 criteria provided, single submitter clinical testing

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