ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=)

gnomAD frequency: 0.00031  dbSNP: rs200122106
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000993959 SCV001147212 likely benign not provided 2018-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000993959 SCV001831591 benign not provided 2020-04-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819704 SCV002068357 benign not specified 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000993959 SCV002442437 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260130 SCV002539475 benign Intellectual disability, autosomal dominant 14 2021-12-05 criteria provided, single submitter clinical testing

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