ClinVar Miner

Submissions for variant NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn)

dbSNP: rs1840520188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001290721 SCV001478858 pathogenic Global developmental delay; Atypical behavior; Delayed speech and language development; Intellectual disability criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002276680 SCV005397102 likely pathogenic Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 2024-10-30 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PM2,PS4_SUP,PP2
OMIM RCV002276680 SCV002549886 pathogenic Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 2022-08-22 no assertion criteria provided literature only

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