ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His)

gnomAD frequency: 0.00001  dbSNP: rs397515427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000033072 SCV000056852 pathogenic MEGF8-related Carpenter syndrome 2012-11-02 no assertion criteria provided literature only
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford RCV000033072 SCV004809156 likely pathogenic MEGF8-related Carpenter syndrome no assertion criteria provided clinical testing

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