ClinVar Miner

Submissions for variant m.827A>G (rs28358569)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Summaries RCV000722076 SCV000853258 drug response Gentamicin response 2018-08-01 criteria provided, single submitter curation The m.827A>G variant has been associated with non-syndromic hearing loss, both with and without the use of aminoglycosides.
OMIM RCV000010265 SCV000030489 pathogenic Deafness, nonsyndromic sensorineural, mitochondrial 2008-04-11 no assertion criteria provided literature only
OMIM RCV000010266 SCV000030490 pathogenic Aminoglycoside-induced deafness 2008-04-11 no assertion criteria provided literature only

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