Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855257 | SCV000998307 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15257G>A (YP_003024038.1:p.Asp171Asn) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1 |
OMIM | RCV000010312 | SCV000030537 | pathogenic | Leber optic atrophy | 1996-08-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010312 | SCV000087253 | unknown | Leber optic atrophy | 2013-09-19 | no assertion criteria provided | curation | Converted during submission to Uncertain significance. |