ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala)

gnomAD frequency: 0.00074  dbSNP: rs139192223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685054 SCV000812526 likely benign MEGF8-related Carpenter syndrome 2024-01-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573911 SCV001800450 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573911 SCV001973698 likely benign not provided no assertion criteria provided clinical testing

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