ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) (rs771922933)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727131 SCV000706032 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000596052 SCV000727694 likely benign not specified 2018-02-23 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000727131 SCV000885569 likely benign not provided 2018-05-26 criteria provided, single submitter clinical testing The p.Val464Val variant (rs771922933) does not alter the amino acid sequence of the HSD17B4 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with hearing loss in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.006 percent (identified on 14 out of 245,598 chromosomes) and has been reported to the ClinVar database (Variation ID: 500197). Based on these observations, the p.Val464Val variant is likely to be benign.
Invitae RCV001087607 SCV001045411 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2020-11-26 criteria provided, single submitter clinical testing

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