Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000853653 | SCV000996681 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.3397A>G (YP_003024026.1:p.Met31Val) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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 |
OMIM | RCV000010376 | SCV000030602 | pathogenic | Alzheimer disease | 1993-07-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010377 | SCV000030603 | pathogenic | Parkinson disease, late-onset | 1993-07-01 | no assertion criteria provided | literature only |