ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe)

gnomAD frequency: 0.00841  dbSNP: rs74638057
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000120099 SCV000334773 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517395 SCV001725882 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001517395 SCV001912374 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259642 SCV002539536 benign Bohring-Opitz syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517395 SCV005315067 benign not provided criteria provided, single submitter not provided
ITMI RCV000120099 SCV000084236 not provided not specified 2013-09-19 no assertion provided reference population

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