ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) (rs28943594)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221985 SCV000269163 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Met753Val in exon 25 of HSD17B4: This variant is not expected to have clinical s ignificance because it has been identified in 9.2% (405/4404) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs28943594).
PreventionGenetics,PreventionGenetics RCV000221985 SCV000304077 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268330 SCV000452151 likely benign Perrault syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307098 SCV000452152 likely benign Bifunctional peroxisomal enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000676087 SCV000636109 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000221985 SCV000729829 benign not specified 2017-09-18 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.
Athena Diagnostics Inc RCV000676087 SCV000842387 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676087 SCV000801823 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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