Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001771160 | SCV002001488 | uncertain significance | not provided | 2021-01-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001771160 | SCV003032679 | likely benign | not provided | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003346688 | SCV004052380 | uncertain significance | Inborn genetic diseases | 2023-08-19 | criteria provided, single submitter | clinical testing | The c.3673G>A (p.A1225T) alteration is located in exon 21 (coding exon 21) of the FLNB gene. This alteration results from a G to A substitution at nucleotide position 3673, causing the alanine (A) at amino acid position 1225 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |