ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.-88GCC[5]

dbSNP: rs886056593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333628 SCV000433326 uncertain significance Bohring-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263615 SCV002544620 benign not provided 2023-07-01 criteria provided, single submitter clinical testing ASXL1: BS1, BS2

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