ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=)

gnomAD frequency: 0.04463  dbSNP: rs61995685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510873 SCV001718022 benign MEGF8-related Carpenter syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001673070 SCV001891645 benign not provided 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510873 SCV002014178 benign MEGF8-related Carpenter syndrome 2021-09-05 criteria provided, single submitter clinical testing

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