Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172193 | SCV000054888 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000040807 | SCV000064498 | uncertain significance | not specified | 2011-10-11 | criteria provided, single submitter | clinical testing | The Ala28755Val variant has not been reported in the literature or previously id entified by our laboratory. Alanine (Ala) at position 28755 is conserved through frog, though fish carries a serine, raising the possibility that a change may b e tolerated. Computational tools are mixed with AlignGVGD predicting benign and SIFT predicting deleterious, though their accuracy is unknown. At this time, add itional data is required to assess the clinical significance of this variant. |
Eurofins Ntd Llc |
RCV000172193 | SCV000861005 | uncertain significance | not provided | 2018-05-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172193 | SCV001152648 | uncertain significance | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |
Ambry Genetics | RCV002362650 | SCV002663973 | uncertain significance | Cardiovascular phenotype | 2019-12-05 | criteria provided, single submitter | clinical testing | The p.A22258V variant (also known as c.66773C>T), located in coding exon 166 of the TTN gene, results from a C to T substitution at nucleotide position 66773. The alanine at codon 22258 is replaced by valine, an amino acid with similar properties. 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. |
Fulgent Genetics, |
RCV002490570 | SCV002792275 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172193 | SCV003819703 | uncertain significance | not provided | 2021-12-15 | criteria provided, single submitter | clinical testing |