Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000854374 | SCV000997408 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.8950G>A (YP_003024031.1:p.Val142Ile) variant in MTATP6 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4 |
Molecular Biology Laboratory, |
RCV000766134 | SCV000839531 | likely pathogenic | Bicuspid aortic valve | no assertion criteria provided | case-control |