Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004232672 | SCV003744451 | uncertain significance | not specified | 2022-01-31 | criteria provided, single submitter | clinical testing | The c.9434A>G (p.N3145S) alteration is located in exon 13 (coding exon 13) of the FAT2 gene. This alteration results from a A to G substitution at nucleotide position 9434, causing the asparagine (N) at amino acid position 3145 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003434680 | SCV004157448 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | FAT2: BP4 |