Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002200961 | SCV002489662 | likely benign | not provided | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004047144 | SCV004945674 | uncertain significance | not specified | 2022-01-04 | criteria provided, single submitter | clinical testing | The c.5110G>A (p.V1704M) alteration is located in exon 37 (coding exon 37) of the SBF1 gene. This alteration results from a G to A substitution at nucleotide position 5110, causing the valine (V) at amino acid position 1704 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV002200961 | SCV005207762 | likely benign | not provided | criteria provided, single submitter | not provided |