ClinVar Miner

Submissions for variant NC_012920.1:m.8993T>G (rs199476133)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224643 SCV000885721 pathogenic not provided 2018-05-24 criteria provided, single submitter clinical testing The m.8993T>G affects the MT-ATP6 gene, and this well-studied variant accounts of the majority of patients diagnosed with Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa; see GeneReviews: NBK1173).
Baylor Miraca Genetics Laboratories, RCV000191106 SCV000245508 pathogenic Cerebellar ataxia 2014-11-06 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory homoplasmic in a 22-year-old female with ataxia, abnormal movements - inherited from a heteroplasmic mother
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224643 SCV000280809 pathogenic not provided 2014-07-15 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000010273 SCV000492530 pathogenic Leigh syndrome 2016-09-29 no assertion criteria provided clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414771 SCV000493050 pathogenic Hypertelorism; Bilateral cleft lip and palate; Low-set ears; Premature birth; Wide intermamillary distance; Scrotal hypoplasia; Postaxial hand polydactyly; Camptodactyly of finger 2014-04-09 criteria provided, single submitter clinical testing
GeneReviews RCV000010273 SCV000188893 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only
OMIM RCV000754646 SCV000030497 pathogenic Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 2009-08-01 no assertion criteria provided literature only
OMIM RCV000010274 SCV000030498 pathogenic Neuropathy ataxia retinitis pigmentosa syndrome 2009-08-01 no assertion criteria provided literature only
Wellcome Centre for Mitochondrial Research,Newcastle University RCV000495419 SCV000577899 pathogenic Mitochondrial diseases 2017-05-22 no assertion criteria provided clinical testing

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