ClinVar Miner

Submissions for variant NM_015338.5(ASXL1):c.2395G>T (p.Asp799Tyr) (rs143594454)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514237 SCV000609907 benign not provided 2017-03-31 criteria provided, single submitter clinical testing
ITMI RCV000120107 SCV000084244 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000403410 SCV000433353 likely benign C-like syndrome 2016-06-14 criteria provided, single submitter clinical testing

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