ClinVar Miner

Submissions for variant m.1393G>A (rs111033325)

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Total submissions: 2
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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 RCV000429692 SCV000510699 likely benign not provided 2016-12-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035042 SCV000058682 benign not specified 2015-08-11 criteria provided, single submitter clinical testing m.1393G>A in MT-RNR1: This variant is not expected to have clinical significance because it is a common variant across multiple haplotypes in a human phylogenet ic database (mito map database: mitomap.org). Although this variant has been ide ntified in 1 Saudi individual with Leber's hereditary optic neuropathy (LHON; A bu-Amero 2006) and 1 Chinese individual with aminoglycoside induced hearing loss (Lu 2010), it has been seen in 26/159 (16.3%) Saudi controls (Abu-Amero 2006) a nd has also been identified in the general population at a frequency of 0.16% (4 9/29867) human mitochondrial DNA sequences (mito map database: mitomap.org).

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