ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6274-9C>G

gnomAD frequency: 0.00041  dbSNP: rs373417416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502347 SCV000595772 uncertain significance not specified 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876080 SCV001018596 likely benign MEGF8-related Carpenter syndrome 2024-12-16 criteria provided, single submitter clinical testing

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