ClinVar Miner

Submissions for variant NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg)

gnomAD frequency: 0.00252  dbSNP: rs144778786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000443025 SCV000511582 likely benign not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197177 SCV001367813 benign See cases 2019-04-01 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
CeGaT Center for Human Genetics Tuebingen RCV000443025 SCV002822384 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing EVI2A: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003922697 SCV004746223 likely benign EVI2A-related condition 2022-02-11 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).

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