ClinVar Miner

Submissions for variant m.15923A>G (rs1556424691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414832 SCV000492835 uncertain significance Sudden cardiac death; Failure to thrive; Constipation; Jaundice; Generalized hypotonia; Infantile onset; Neonatal onset 2015-09-21 criteria provided, single submitter clinical testing
GeneReviews RCV000192057 SCV000207622 pathogenic Myoclonus with epilepsy with ragged red fibers 2015-01-29 no assertion criteria provided literature only
OMIM RCV000032775 SCV000056539 uncertain significance Variant of unknown significance 1992-08-01 no assertion criteria provided literature only
Undiagnosed Diseases Network,NIH RCV000791268 SCV000930554 pathogenic Mitochondrial diseases 2019-03-13 criteria provided, single submitter clinical testing

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