ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.4752G>C (p.Leu1584=)

gnomAD frequency: 0.00014  dbSNP: rs541175277
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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 RCV003649157 SCV001098936 likely benign MEGF8-related Carpenter syndrome 2022-12-03 criteria provided, single submitter clinical testing

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