Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000434000 | SCV000510565 | likely benign | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Wong Mito Lab, |
RCV000855307 | SCV000998357 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15497G>A (YP_003024038.1:p.Gly251Ser) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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: BS1, BS2 |
OMIM | RCV000022894 | SCV000044185 | risk factor | Obesity | 2003-10-01 | no assertion criteria provided | literature only |