Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224169 | SCV000281476 | uncertain significance | not provided | 2014-10-13 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Wong Mito Lab, |
RCV000854460 | SCV000997495 | likely benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.9152T>C (YP_003024031.1:p.Ile209Thr) variant in MTATP6 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BP6 |
Genome |
RCV000709942 | SCV000840302 | not provided | Mitochondrial-DNA disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |