ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) (rs11539471)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214252 SCV000728565 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 RCV000263505 SCV000452131 benign Perrault syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299859 SCV000452132 benign Bifunctional peroxisomal enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214252 SCV000269158 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Trp536Arg in exon 19 of HSD17B4: This variant is not expected to have clinical s ignificance because it has been identified in 30.1% (1324/4404) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs11539471).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676082 SCV000801818 benign not provided 2015-10-23 no assertion criteria provided clinical testing
PreventionGenetics RCV000214252 SCV000304073 benign not specified criteria provided, single submitter clinical testing

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