Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002578977 | SCV003491454 | likely benign | not provided | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004073424 | SCV003706354 | uncertain significance | not specified | 2022-10-03 | criteria provided, single submitter | clinical testing | The c.4907G>T (p.G1636V) alteration is located in exon 9 (coding exon 9) of the FAT2 gene. This alteration results from a G to T substitution at nucleotide position 4907, causing the glycine (G) at amino acid position 1636 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |