ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly)

gnomAD frequency: 0.00178  dbSNP: rs114542403
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193512 SCV000247456 benign not specified 2016-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000907485 SCV001052193 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000907485 SCV001861858 benign not provided 2020-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338454 SCV004050292 likely benign Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2023-04-11 criteria provided, single submitter clinical testing

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