ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.6110del (p.Pro2037fs)

dbSNP: rs747712363
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009080 SCV001168890 likely pathogenic not provided 2025-01-14 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 212 amino acids are replaced with 42 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001009080 SCV001500158 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing

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