Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224965 | SCV000281618 | pathogenic | not provided | 2014-08-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000224965 | SCV000493135 | pathogenic | not provided | 2019-12-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000224965 | SCV000884155 | pathogenic | not provided | 2017-05-12 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV000850950 | SCV000993184 | pathogenic | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.8344A>G variant in MT-TK gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PS5 |
Undiagnosed Diseases Network, |
RCV000010192 | SCV001432759 | pathogenic | MERRF syndrome | 2020-07-09 | criteria provided, single submitter | clinical testing | This is a known pathogenic variant that accounts for about 80% of individuals with MERRF. |
OMIM | RCV000010192 | SCV000030415 | pathogenic | MERRF syndrome | 2010-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010193 | SCV000030416 | pathogenic | Leigh syndrome | 2010-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010194 | SCV000030417 | pathogenic | Parkinson disease, mitochondrial | 2010-10-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010193 | SCV000188890 | pathogenic | Leigh syndrome | 2014-04-17 | no assertion criteria provided | literature only | |
Gene |
RCV000010192 | SCV000207614 | pathogenic | MERRF syndrome | 2015-01-29 | no assertion criteria provided | literature only | |
Wellcome Centre for Mitochondrial Research, |
RCV000495310 | SCV000577896 | pathogenic | Mitochondrial diseases | 2017-05-22 | no assertion criteria provided | clinical testing |