ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.374-9C>T

gnomAD frequency: 0.01488  dbSNP: rs6087903
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516928 SCV001725302 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001516928 SCV001765661 likely benign not provided 2021-09-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259897 SCV002539497 benign Bohring-Opitz syndrome 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488726 SCV002801956 likely benign Bohring-Opitz syndrome; Myelodysplastic syndrome 2021-08-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001516928 SCV001931215 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725171 SCV001959705 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725171 SCV001968204 benign not specified no assertion criteria provided clinical testing

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