ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.466-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387582 SCV004099053 pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2023-08-21 criteria provided, single submitter clinical testing PVS1_Strong, PS2, PM2

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