ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.6123_6131dup (p.Pro2044_Leu2045insProProPro)

gnomAD frequency: 0.00003  dbSNP: rs2067781358
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003443581 SCV004168741 uncertain significance not provided 2023-04-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 3 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge

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