ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=)

gnomAD frequency: 0.00839  dbSNP: rs117901891
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000401303 SCV000334774 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517394 SCV001725881 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001517394 SCV001843021 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259766 SCV002539534 benign Bohring-Opitz syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517394 SCV005315066 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000401303 SCV001954393 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001517394 SCV001972259 likely benign not provided no assertion criteria provided clinical testing

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