Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000854703 | SCV000997745 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.11084A>G (YP_003024035.1:p.Thr109Ala) variant in MTND4 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2 |
OMIM | RCV000010355 | SCV000030581 | pathogenic | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1993-10-01 | no assertion criteria provided | literature only |