ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser)

gnomAD frequency: 0.00747  dbSNP: rs3746609
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000120105 SCV000334775 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521703 SCV001731092 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001521703 SCV001866753 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259644 SCV002539508 benign Bohring-Opitz syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521703 SCV005315057 benign not provided criteria provided, single submitter not provided
ITMI RCV000120105 SCV000084242 not provided not specified 2013-09-19 no assertion provided reference population
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000120105 SCV001953694 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001521703 SCV001965404 likely benign not provided no assertion criteria provided clinical testing

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