Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004214587 | SCV003711863 | uncertain significance | not specified | 2021-06-22 | criteria provided, single submitter | clinical testing | The c.3944C>T (p.T1315M) alteration is located in exon 4 (coding exon 4) of the FAT2 gene. This alteration results from a C to T substitution at nucleotide position 3944, causing the threonine (T) at amino acid position 1315 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003883935 | SCV004700564 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | FAT2: BP4 |