Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004101955 | SCV003569174 | uncertain significance | not specified | 2021-06-11 | criteria provided, single submitter | clinical testing | The c.4750C>T (p.R1584W) alteration is located in exon 8 (coding exon 8) of the FAT2 gene. This alteration results from a C to T substitution at nucleotide position 4750, causing the arginine (R) at amino acid position 1584 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003434611 | SCV004157467 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | FAT2: BP4 |