ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs)

dbSNP: rs1131692164
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000494729 SCV000583501 pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2020-10-22 no assertion criteria provided literature only

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