ClinVar Miner

Submissions for variant m.1494C>T (rs267606619)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000010263 SCV000914173 pathogenic Deafness, nonsyndromic sensorineural, mitochondrial 2018-06-14 no assertion criteria provided literature only
Medical Genetics Summaries RCV000722075 SCV000853257 drug response Gentamicin response 2018-08-01 criteria provided, single submitter curation Individuals who have the m.1494C > T variant are at risk of gentamicin-induced hearing loss.
OMIM RCV000010262 SCV000030486 pathogenic Aminoglycoside-induced deafness 2006-02-10 no assertion criteria provided literature only
OMIM RCV000010263 SCV000030487 pathogenic Deafness, nonsyndromic sensorineural, mitochondrial 2006-02-10 no assertion criteria provided literature only
PharmGKB RCV000211324 SCV000268278 drug response aminoglycoside antibacterials response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660813 SCV000783052 drug response amikacin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660814 SCV000783053 drug response gentamicin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660815 SCV000783054 drug response kanamycin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660816 SCV000783055 drug response neomycin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660817 SCV000783056 drug response streptomycin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660818 SCV000783057 drug response tobramycin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

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