ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)

gnomAD frequency: 0.00044  dbSNP: rs150311870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003827152 SCV004627465 benign MEGF8-related Carpenter syndrome 2024-10-17 criteria provided, single submitter clinical testing

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