ClinVar Miner

Submissions for variant NM_006421.5(ARFGEF1):c.1641G>A (p.Met547Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002468951 SCV002757781 uncertain significance Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 2022-10-21 no assertion criteria provided clinical testing Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures

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