ClinVar Miner

Submissions for variant NM_014921.5(ADGRL1):c.3517C>T (p.Arg1173Ter)

dbSNP: rs907174700
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Total submissions: 1
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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 RCV002274845 SCV002559851 pathogenic Global developmental delay; Specific learning disability; Intellectual disability criteria provided, single submitter clinical testing

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