ClinVar Miner

Submissions for variant NC_012920.1:m.12013A>G (rs1057516067)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal RCV000408933 SCV000484526 uncertain significance Epilepsy; Encephalopathy; Dementia; Muscular hypotonia; Developmental delay; Calcification of extrapyramidal basal ganglia 2016-11-21 no assertion criteria provided clinical testing
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal RCV000408948 SCV000484527 uncertain significance Hearing impairment; Microcephaly; Developmental delay; Congenital cardiomyopathy 2016-11-21 no assertion criteria provided clinical testing
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal RCV000408924 SCV000484528 uncertain significance Hearing impairment; Macrocephalus; Developmental delay 2016-11-21 no assertion criteria provided clinical testing
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal RCV000408939 SCV000484529 uncertain significance Leigh syndrome 2016-11-21 no assertion criteria provided clinical testing

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