ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.990T>C (p.Ser330=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003395186 SCV004133733 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing MAPK8IP3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003985895 SCV004788510 benign MAPK8IP3-related disorder 2019-11-27 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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