ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)

dbSNP: rs766433101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706715 SCV001934469 pathogenic Bohring-Opitz syndrome 2021-03-05 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
CeGaT Center for Human Genetics Tuebingen RCV001726412 SCV001962380 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing ASXL1: PVS1:Strong, PM2, PS2:Moderate, PS4:Moderate
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003812 SCV001162262 pathogenic Juvenile myelomonocytic leukemia; Cafe-au-lait spot no assertion criteria provided research

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