Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040553 | SCV000064244 | uncertain significance | not specified | 2012-01-19 | criteria provided, single submitter | clinical testing | The Thr20826Met variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD and SIFT) do not provide strong support fo r or against pathogenicity. Additional information is needed to fully assess the clinical significance of the Thr20826Met variant. |
Labcorp Genetics |
RCV000456238 | SCV000543095 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-12-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997408 | SCV001152780 | uncertain significance | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000997408 | SCV001714044 | uncertain significance | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798177 | SCV002042622 | uncertain significance | Cardiomyopathy | 2020-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326750 | SCV002631074 | uncertain significance | Cardiovascular phenotype | 2020-08-21 | criteria provided, single submitter | clinical testing | The p.T14329M variant (also known as c.42986C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 42986. The threonine at codon 14329 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Athena Diagnostics | RCV000997408 | SCV002770594 | uncertain significance | not provided | 2022-02-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477123 | SCV002784590 | 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 | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000997408 | SCV003822239 | uncertain significance | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000997408 | SCV001743522 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000997408 | SCV001969852 | uncertain significance | not provided | no assertion criteria provided | clinical testing |