Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173370 | SCV000224474 | likely benign | not specified | 2015-05-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704247 | SCV000517159 | benign | not provided | 2019-02-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316990 | SCV000850963 | uncertain significance | Inborn genetic diseases | 2016-03-14 | criteria provided, single submitter | clinical testing | The c.*4C>T variant is located in the 3' untranslated region (3’ UTR) of the FOXG1 gene. This variant results from a C to T substitution the last translated codon. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. Based on data from ExAC, the T allele was reported in 32 of 120975 (0.03%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed March 14, 2016]). This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |