ClinVar Miner

Submissions for variant NM_004827.3(ABCG2):c.34G>A (p.Val12Met)

gnomAD frequency: 0.07216  dbSNP: rs2231137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003982848 SCV004796362 likely benign ABCG2-related disorder 2021-07-21 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).
OMIM RCV000023337 SCV000044628 association Uric acid concentration, serum, quantitative trait locus 1 2012-01-15 no assertion criteria provided literature only
OMIM RCV000023338 SCV000044629 affects Blood group, Junior system 2012-01-15 no assertion criteria provided literature only

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