ClinVar Miner

Submissions for variant NC_012920.1:m.9355A>T (rs1556423663)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626562 SCV000747263 uncertain significance Cerebellar ataxia; Short stature; Hearing impairment; Difficulty walking; Oromandibular dystonia 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626563 SCV000747264 uncertain significance Nephrolithiasis; Subcutaneous lipoma; Exercise intolerance; Acute hepatic failure; Abnormal mitochondria in muscle tissue; Moderate sensorineural hearing impairment; Sleep apnea; Chronic fatigue 2017-01-01 criteria provided, single submitter clinical testing

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