ClinVar Miner

Submissions for variant NC_000007.14:g.129774774G>A

gnomAD frequency: 0.00013  dbSNP: rs375368092
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Total submissions: 2
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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 RCV000825956 SCV000967441 uncertain significance not specified 2018-04-17 criteria provided, single submitter clinical testing The c.-5C>T variant in MIR96 has not been previously reported in individuals wit h hearing loss, but has been identified in 10/17282 African chromosomes by the G enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs3 75368092). This variant is located in the 5?untranslated region (5'UTR), and var iants in this region could have an effect on transcriptional or translational re gulation. However, no pathogenic variants have been reported in the 5?UTR of MIR 96. In summary, the clinical significance of the c.-5C>T variant is uncertain. A CMG/AMP Criteria applied: None.
PreventionGenetics, part of Exact Sciences RCV004758730 SCV005357891 likely benign MIR96-related condition 2024-09-27 no assertion criteria provided 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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