ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter)

dbSNP: rs1674609315
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001260908 SCV001437675 pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome criteria provided, single submitter clinical testing PVS1, PS2, PM2

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