Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002947160 | SCV003265376 | benign | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004067062 | SCV003690947 | uncertain significance | not specified | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.5477C>T (p.S1826L) alteration is located in exon 9 (coding exon 9) of the FAT2 gene. This alteration results from a C to T substitution at nucleotide position 5477, causing the serine (S) at amino acid position 1826 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV002947160 | SCV005041702 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | FAT2: BP4, BS1 |