ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser)

gnomAD frequency: 0.00572  dbSNP: rs571264557
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503505 SCV000593354 uncertain significance not specified 2016-05-26 criteria provided, single submitter clinical testing
GeneDx RCV001724030 SCV001950490 benign not provided 2020-03-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23906836)
Labcorp Genetics (formerly Invitae), Labcorp RCV001724030 SCV002343799 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001724030 SCV004123571 benign not provided 2023-05-01 criteria provided, single submitter clinical testing ARID1A: PP2, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003972823 SCV004789172 benign ARID1A-related disorder 2019-02-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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