ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.4492G>A (p.Ala1498Thr)

gnomAD frequency: 0.00536  dbSNP: rs116531573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907198 SCV001051888 benign not provided 2018-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915188 SCV004731828 likely benign ARID2-related condition 2020-01-06 criteria provided, single submitter 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).
ITMI RCV000120083 SCV000084220 not provided not specified 2013-09-19 no assertion provided reference population

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