ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.1014G>A (p.Ala338=)

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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 RCV002913105 SCV003249487 likely benign MEGF8-related Carpenter syndrome 2022-03-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703284 SCV005208479 likely benign not provided criteria provided, single submitter not provided

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