Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705114 | SCV000250422 | likely benign | not provided | 2022-02-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001312410 | SCV001502865 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433879 | SCV002751055 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-03-09 | criteria provided, single submitter | clinical testing | The p.K975N variant (also known as c.2925G>C), located in coding exon 19 of the FLNA gene, results from a G to C substitution at nucleotide position 2925. The lysine at codon 975 is replaced by asparagine, an amino acid with similar properties. Based on data from gnomAD, the C allele was reported in 2 of 200275 (0.001%) total alleles. This amino acid position is not well conserved in available 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, |
RCV001705114 | SCV004225703 | uncertain significance | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | PP2 |