ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)

gnomAD frequency: 0.00030  dbSNP: rs113718290
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Total submissions: 4
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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 RCV000850479 SCV000992677 uncertain significance Marfanoid habitus and intellectual disability criteria provided, single submitter research
GeneDx RCV001675965 SCV001892898 benign not provided 2020-02-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32277047)
Labcorp Genetics (formerly Invitae), Labcorp RCV001675965 SCV002409887 likely benign not provided 2024-10-03 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV002279732 SCV002567954 uncertain significance Intellectual disability, autosomal dominant 14 2022-08-22 criteria provided, single submitter clinical testing

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