ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys)

dbSNP: rs1347862457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850400 SCV000992597 uncertain significance Trichohepatoenteric syndrome 1 2019-07-03 criteria provided, single submitter research
GeneDx RCV002293494 SCV002586644 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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