Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001219151 | SCV001391072 | 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 | |
Ambry Genetics | RCV002370002 | SCV002625133 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-09-22 | criteria provided, single submitter | clinical testing | The p.R1312C variant (also known as c.3934C>T), located in coding exon 22 of the FLNA gene, results from a C to T substitution at nucleotide position 3934. The arginine at codon 1312 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and cysteine 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987692 | SCV004803574 | uncertain significance | not specified | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000754796 | SCV000882574 | uncertain significance | Hydronephrosis; Myopia; Abnormality of the dentition; Microcephaly; Intellectual disability, severe; Ventricular septal defect | 2019-01-29 | no assertion criteria provided | clinical testing |