ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.498-2A>G (rs1135401769)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496145 SCV000586710 pathogenic Desanto-shinawi syndrome 2017-08-01 criteria provided, single submitter clinical testing De novo variant affecting the canonical splice site in a patient with hypotonia, mild ID, behavioral anomalies, synophrys.

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