ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His)

gnomAD frequency: 0.00051  dbSNP: rs141153248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870980 SCV001012564 benign MEGF8-related Carpenter syndrome 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573150 SCV005309747 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573150 SCV001798575 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573150 SCV001975808 likely benign not provided no assertion criteria provided clinical testing

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