ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.1437+11A>G

gnomAD frequency: 0.00019  dbSNP: rs377709151
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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 RCV003581147 SCV004280545 likely benign Adams-Oliver syndrome 4 2023-04-25 criteria provided, single submitter clinical testing

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