Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000600665 | SCV000710968 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Ala3488Ala in exon 44B of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.04% (10/25726) of Finnish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs369327691). ACMG/AMP Criteria applied: BS1, BP4, BP 7(Richards 2015). |
Labcorp Genetics |
RCV002532713 | SCV001001639 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-04-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000861349 | SCV001153151 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Fulgent Genetics, |
RCV002476348 | SCV002798906 | likely benign | 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 | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000861349 | SCV005260130 | likely benign | not provided | criteria provided, single submitter | not provided |