ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) (rs25640)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179310 SCV000231540 benign not specified 2015-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000179310 SCV000728564 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000362861 SCV000452107 benign Perrault syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391832 SCV000452108 benign Bifunctional peroxisomal enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000179310 SCV000269165 benign not specified 2014-10-31 criteria provided, single submitter clinical testing Arg131His in exon 7 of HSD17B4: This variant is not expected to have clinical si gnificance because it has been identified in 46% (3954/8596) of European America n chromosomes and 18% (776/4404) of African American chromosomes by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs25640).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676075 SCV000801810 benign not provided 2015-10-26 no assertion criteria provided clinical testing
PreventionGenetics RCV000179310 SCV000304079 benign not specified criteria provided, single submitter clinical testing

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