ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)

gnomAD frequency: 0.00004  dbSNP: rs191230655
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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 RCV002774884 SCV003014183 likely benign Adams-Oliver syndrome 4 2022-08-22 criteria provided, single submitter clinical testing

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