ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe)

gnomAD frequency: 0.03000  dbSNP: rs6057581
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966086 SCV001113373 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000966086 SCV001912204 benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259643 SCV002539543 benign Bohring-Opitz syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000966086 SCV005315070 benign not provided criteria provided, single submitter not provided
ITMI RCV000120102 SCV000084239 not provided not specified 2013-09-19 no assertion provided reference population
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000120102 SCV001951882 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000120102 SCV001965489 benign not specified no assertion criteria provided clinical testing

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