ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.185del (p.Glu62fs)

dbSNP: rs1570938014
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000790477 SCV000929804 pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2019-03-27 criteria provided, single submitter clinical testing

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