Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003448305 | SCV004175930 | benign | FOXG1 disorder | 2023-10-13 | reviewed by expert panel | curation | The p.Pro84His variant in FOXG1 is present in 1 individual in gnomAD (0.0039%) (not sufficient to meet BS1 criteria). The p.Pro84His variant is observed in at least 20 unaffected individuals (internal database - GeneDx; internal database - Invitae) (BS2). The p.Pro84His variant is found in at least 4 patients with an alternate molecular basis of disease (internal database - Invitae; internal database - GeneDx) (BP5_strong). Computational analysis prediction tools suggest that the p.Pro84His variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Pro84His variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BS2, BP5_strong, BP4). |
Gene |
RCV000585314 | SCV000518070 | likely benign | not provided | 2018-07-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585314 | SCV000692784 | uncertain significance | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001365335 | SCV001561601 | benign | Rett syndrome, congenital variant | 2023-11-15 | criteria provided, single submitter | clinical testing |