ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter)

gnomAD frequency: 0.00001  dbSNP: rs2011567269
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814854 SCV002061723 likely pathogenic Bohring-Opitz syndrome 2021-11-24 criteria provided, single submitter clinical testing PVS1, PM2

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