ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.2171T>C (p.Leu724Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141604 SCV003825147 uncertain significance Bohring-Opitz syndrome 2020-11-13 criteria provided, single submitter clinical testing

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