ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6540C>T (p.Asp2180=)

gnomAD frequency: 0.00002  dbSNP: rs781099770
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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 RCV001425206 SCV001627829 likely benign MEGF8-related Carpenter syndrome 2021-01-06 criteria provided, single submitter clinical testing

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