ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)

gnomAD frequency: 0.00007  dbSNP: rs752026201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503870 SCV000593334 likely benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056837 SCV002407684 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259971 SCV002539446 benign Intellectual disability, autosomal dominant 14 2021-12-05 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV002259971 SCV004228530 not provided Intellectual disability, autosomal dominant 14 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-14-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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