ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.374C>A (p.Ser125Ter) (rs864321692)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624276 SCV000740824 pathogenic Inborn genetic diseases 2015-02-02 criteria provided, single submitter clinical testing
OMIM RCV000203521 SCV000258624 pathogenic Desanto-shinawi syndrome 2015-11-01 no assertion criteria provided literature only

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