ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.1074del (p.Gly359fs) (rs587776994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000049242 SCV000077495 pathogenic Adams-Oliver syndrome 4 2013-04-04 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162168 SCV000196454 likely pathogenic Adams-Oliver syndrome 2014-12-01 no assertion criteria provided research

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