Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000853629 | SCV000996657 | likely benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.3308T>G (YP_003024026.1:p.Met1?) variant in MTND1 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS4, BP5 |
OMIM | RCV000010381 | SCV000030607 | pathogenic | SUDDEN INFANT DEATH SYNDROME | 1999-09-01 | no assertion criteria provided | literature only |