Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532103 | SCV000639812 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001571401 | SCV001795871 | likely benign | not provided | 2023-03-22 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV002358505 | SCV002649490 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-12-17 | criteria provided, single submitter | clinical testing | The p.I1963F variant (also known as c.5887A>T), located in coding exon 35 of the FLNA gene, results from an A to T substitution at nucleotide position 5887. The isoleucine at codon 1963 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, phenylalanine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV001571401 | SCV004225697 | uncertain significance | not provided | 2022-08-25 | criteria provided, single submitter | clinical testing | BP4, PP3 |