ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.2428G>C (p.Ala810Pro)

gnomAD frequency: 0.00019  dbSNP: rs74916892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000934724 SCV001080453 benign not provided 2018-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965006 SCV004782418 likely benign ARID2-related condition 2019-02-22 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 RCV000120079 SCV000084216 not provided not specified 2013-09-19 no assertion provided reference population

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