Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998294 | SCV001154281 | uncertain significance | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000998294 | SCV001704482 | likely benign | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000998294 | SCV001780790 | likely benign | not provided | 2020-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549084 | SCV003682064 | uncertain significance | Inborn genetic diseases | 2021-05-17 | criteria provided, single submitter | clinical testing | The c.8284A>C (p.N2762H) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a A to C substitution at nucleotide position 8284, causing the asparagine (N) at amino acid position 2762 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |