Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517414 | SCV000613293 | likely benign | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000517414 | SCV001797052 | likely benign | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000517414 | SCV002507508 | likely benign | not provided | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525032 | SCV003660731 | uncertain significance | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.967G>A (p.V323I) alteration is located in exon 8 (coding exon 7) of the FGFR3 gene. This alteration results from a G to A substitution at nucleotide position 967, causing the valine (V) at amino acid position 323 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |