ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.1933+13A>G

gnomAD frequency: 0.02617  dbSNP: rs139484187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639284 SCV001850474 benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072947 SCV002371137 benign MEGF8-related Carpenter syndrome 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639284 SCV005307553 benign not provided criteria provided, single submitter not provided

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