ClinVar Miner

Submissions for variant NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) (rs141542003)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000239528 SCV000930284 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 29 2019-04-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198174 SCV001369031 likely pathogenic Autistic disorder of childhood onset; Delayed speech and language development; Intellectual disability, mild; Attention deficit hyperactivity disorder 2019-06-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in heterozygous state.
Wellcome Centre for Mitochondrial Research,Newcastle University RCV000240617 SCV000280579 pathogenic Mitochondrial diseases 2016-05-18 no assertion criteria provided clinical testing
OMIM RCV000239528 SCV000297964 pathogenic Mitochondrial complex 1 deficiency, nuclear type 29 2018-12-13 no assertion criteria provided literature only

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