ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=)

gnomAD frequency: 0.01335  dbSNP: rs115335139
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536417 SCV000652870 benign MEGF8-related Carpenter syndrome 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717660 SCV005309738 benign not provided criteria provided, single submitter not provided

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