ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.4624_4626TAA[1] (p.Ter1542_Ter(1542_?)(?))

dbSNP: rs2145398075
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002276500 SCV002564333 uncertain significance Bohring-Opitz syndrome 2021-08-12 criteria provided, single submitter clinical testing

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