Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002111164 | SCV002382082 | likely benign | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498322 | SCV002813584 | likely benign | Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004045772 | SCV004872476 | uncertain significance | Inborn genetic diseases | 2024-01-17 | criteria provided, single submitter | clinical testing | The c.2413A>G (p.T805A) alteration is located in exon 16 (coding exon 16) of the FN1 gene. This alteration results from a A to G substitution at nucleotide position 2413, causing the threonine (T) at amino acid position 805 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |