ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His)

gnomAD frequency: 0.00308  dbSNP: rs45623135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537054 SCV000652890 likely benign MEGF8-related Carpenter syndrome 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001796118 SCV004139633 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MEGF8: BS2
PreventionGenetics, part of Exact Sciences RCV003980008 SCV004795227 likely benign MEGF8-related condition 2020-02-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796118 SCV002036224 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796118 SCV002038266 likely benign not provided no assertion criteria provided clinical testing

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