Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236460 | SCV001409184 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV002227512 | SCV002506778 | uncertain significance | Aicardi-Goutieres syndrome 7 | 2021-07-02 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252341 | SCV002523676 | uncertain significance | See cases | 2020-05-08 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BS2 |
Ce |
RCV003456483 | SCV004183778 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | IFIH1: PVS1:Strong, BS2 |