Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001391830 | SCV001593462 | likely benign | not provided | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004037713 | SCV003949982 | uncertain significance | not specified | 2023-05-30 | criteria provided, single submitter | clinical testing | The c.10666A>G (p.T3556A) alteration is located in exon 18 (coding exon 18) of the FAT2 gene. This alteration results from a A to G substitution at nucleotide position 10666, causing the threonine (T) at amino acid position 3556 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV001391830 | SCV004157443 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | FAT2: BP4, BS1 |