Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224964 | SCV000281559 | uncertain significance | not provided | 2015-05-26 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Wong Mito Lab, |
RCV000850736 | SCV000992969 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.4336T>C variant in MT-TQ gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4 |
Athena Diagnostics Inc | RCV001288305 | SCV001475309 | benign | not specified | 2020-08-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000010239 | SCV000030463 | pathogenic | Sensorineural deafness and migraine | 2001-06-01 | no assertion criteria provided | literature only |