ClinVar Miner

Submissions for variant NM_018263.6(ASXL2):c.1143-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002795915 SCV003035413 likely pathogenic Shashi-Pena syndrome 2022-06-08 criteria provided, single submitter clinical testing

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