Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230222 | SCV000288139 | likely benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000998344 | SCV000519052 | likely benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000662807 | SCV000785640 | uncertain significance | Paragangliomas 5 | 2017-10-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000998344 | SCV001154354 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | SDHA: BP4 |
Sema4, |
RCV002255137 | SCV002527750 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-15 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002518337 | SCV003724469 | uncertain significance | Inborn genetic diseases | 2022-05-10 | criteria provided, single submitter | clinical testing | The c.456+6G>T intronic alteration consists of a G to T substitution 6 nucleotides after exon 4 of the SDHA gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Myriad Genetics, |
RCV000662807 | SCV004018608 | likely benign | Paragangliomas 5 | 2023-04-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000998344 | SCV004220306 | benign | not provided | 2023-05-23 | criteria provided, single submitter | clinical testing |