ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.1722G>C (p.Trp574Cys)

dbSNP: rs869312927
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210632 SCV000262889 likely pathogenic Inborn genetic diseases 2013-12-10 criteria provided, single submitter clinical testing

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