ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.8373C>T (p.Pro2791=)

gnomAD frequency: 0.00023  dbSNP: rs374532854
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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 RCV003103855 SCV001014441 likely benign MEGF8-related Carpenter syndrome 2022-05-17 criteria provided, single submitter clinical testing

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