ClinVar Miner

Submissions for variant NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) (rs1553768038)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000662241 SCV000747162 pathogenic Adams-Oliver syndrome 1 2017-12-01 criteria provided, single submitter research

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