ClinVar Miner

Submissions for variant NM_033238.3(PML):c.1710+1245A>G

gnomAD frequency: 0.51511  dbSNP: rs743580
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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 RCV000455225 SCV000540060 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 RCV004715220 SCV005288873 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972733 SCV004797322 benign PML-related disorder 2019-10-17 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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