ClinVar Miner

Submissions for variant NM_015721.3(GEMIN4):c.3127G>A (p.Gly1043Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003413067 SCV004143662 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing GEMIN4: BP4, BS2
GeneDx RCV003413067 SCV005379947 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003929078 SCV004745007 benign GEMIN4-related disorder 2019-05-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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