ClinVar Miner

Submissions for variant NM_000250.2(MPO):c.2031-6A>C

gnomAD frequency: 0.14966  dbSNP: rs2071409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455269 SCV000539671 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Breakthrough Genomics, Breakthrough Genomics RCV004710064 SCV005252790 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972725 SCV004790915 benign MPO-related disorder 2021-09-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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