ClinVar Miner

Submissions for variant NM_001134382.3(IQSEC1):c.3140_3163del (p.His1047_Ala1055delinsPro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003991707 SCV004809857 uncertain significance Intellectual developmental disorder with short stature and behavioral abnormalities 2024-04-04 criteria provided, single submitter clinical testing

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