Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000440780 | SCV000511470 | likely benign | not provided | 2017-01-06 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Wong Mito Lab, |
RCV000855370 | SCV000998420 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15777G>A (YP_003024038.1:p.Ser344Asn) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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, BP4 |