ClinVar Miner

Submissions for variant m.1291T>C

dbSNP: rs267606620
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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 RCV000224305 SCV000280744 likely benign not provided 2015-08-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
OMIM RCV000010258 SCV000030482 pathogenic Mitochondrial non-syndromic sensorineural hearing loss 2006-03-24 no assertion criteria provided literature only

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