Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035054 | SCV000058694 | benign | not specified | 2015-10-10 | criteria provided, single submitter | clinical testing | m.7493C>T in MTTS1: This variant is not expected to have clinical significance b ecause it has been identified in virtually all individuals from haplotypes D2a ( 60/60) and D2b (13/13) reported in MitoMap (http://www.mitomap.org/MITOMAP). |
Wong Mito Lab, |
RCV000850899 | SCV000993133 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.7493C>T variant in MT-TS1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished).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, BS2, BP4 |