ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.402C>T (p.Asn134=)

gnomAD frequency: 0.00048  dbSNP: rs117439608
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 RCV000650617 SCV000772464 benign MEGF8-related Carpenter syndrome 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717705 SCV005307548 benign not provided criteria provided, single submitter not provided

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