Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191107 | SCV000245510 | likely pathogenic | Dystonic disorder; Dysarthria | 2014-01-22 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo and 49% heteroplasmic in a 31-year-old male with profound and progressive generalized dystonia, dysarthria, prominent perivascular spaces. This same codon was affected in a family with Leber optic atrophy and hereditary spastic dystonia (PMID 8644732). |
Wong Mito Lab, |
RCV000855132 | SCV000998182 | uncertain significance | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.14597A>G (YP_003024037.1:p.Ile26Thr) variant in MTND6 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM9, PP6, PP7 |
Mendelics | RCV002247618 | SCV002518296 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing |