ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) (rs28943590)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506112 SCV000603970 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727234 SCV000706824 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000506112 SCV000727311 likely benign not specified 2018-02-19 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.
Invitae RCV000555533 SCV000636108 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 2017-07-27 criteria provided, single submitter clinical testing

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