Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001945195 | SCV002183756 | likely benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490282 | SCV002778214 | uncertain significance | Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002557678 | SCV003547892 | uncertain significance | Inborn genetic diseases | 2022-12-01 | criteria provided, single submitter | clinical testing | The c.2879C>G (p.T960S) alteration is located in exon 19 (coding exon 19) of the FN1 gene. This alteration results from a C to G substitution at nucleotide position 2879, causing the threonine (T) at amino acid position 960 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV001945195 | SCV005409003 | uncertain significance | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | BP4 |