ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)

dbSNP: rs749970078
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194517 SCV000246495 uncertain significance not specified 2015-06-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727463 SCV000708747 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000727463 SCV001831383 benign not provided 2020-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727463 SCV002195591 benign not provided 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727463 SCV004123577 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing ARID1A: BP3, BS1
PreventionGenetics, part of Exact Sciences RCV003955138 SCV004775989 likely benign ARID1A-related disorder 2021-05-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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