Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003235093 | SCV003933692 | benign | FOXG1 disorder | 2023-04-14 | reviewed by expert panel | curation | The allele frequency of the c.206_208dup variant in FOXG1 is 0.076% in East Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The c.206_208dup (p.Pro69_Gln70insPro) variant is observed in at least 2 unaffected individuals (GeneDx internal database)(BS2). The c.206_208dup variant is an in-frame duplication present in a repetitive region of FOXG1 (BP3). In summary, the c.206_208dup variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP3). |
Eurofins Ntd Llc |
RCV000173366 | SCV000224469 | uncertain significance | not provided | 2015-05-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001451542 | SCV001655173 | likely benign | Rett syndrome, congenital variant | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000173366 | SCV001894743 | benign | not provided | 2020-04-14 | criteria provided, single submitter | clinical testing |