ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.3846C>T (p.Val1282=)

gnomAD frequency: 0.00007  dbSNP: rs142473307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002219486 SCV002378210 likely benign MEGF8-related Carpenter syndrome 2024-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958606 SCV004774558 likely benign MEGF8-related disorder 2019-12-05 no assertion criteria provided 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).

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