Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002624606 | SCV003517497 | likely benign | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004070776 | SCV004058246 | uncertain significance | not specified | 2023-07-29 | criteria provided, single submitter | clinical testing | The c.361G>A (p.A121T) alteration is located in exon 5 (coding exon 4) of the SERPINF2 gene. This alteration results from a G to A substitution at nucleotide position 361, causing the alanine (A) at amino acid position 121 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |