Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003448295 | SCV004175928 | likely benign | FOXG1 disorder | 2023-10-13 | reviewed by expert panel | curation | The c.1119G>A (p.Pro373=) variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - Invitae) (BP5_strong). The c.1119G>A (p.Pro373=) variant is observed in at least 1 unaffected individuals (internal database - Invitae) (BS2_supporting). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.1119G>A (p.Pro373=) variant in FOXG1 is classified as Likely Benign based on the ACMG/AMP criteria (BP5_strong, BS2_supporting, BP4). |
Eurofins Ntd Llc |
RCV000326572 | SCV000335408 | uncertain significance | not provided | 2015-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001450627 | SCV001654240 | likely benign | Rett syndrome, congenital variant | 2022-10-28 | criteria provided, single submitter | clinical testing |