Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154974 | SCV000204656 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Ser6731Ser in exon 79 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/3042 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). Ser6731Ser in exon 79 of TTN (allele frequenc y = 0.03%, 1/3042) ** |
Invitae | RCV000476615 | SCV000555540 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000154974 | SCV000616029 | benign | not specified | 2016-10-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154974 | SCV002041821 | likely benign | not specified | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840156 | SCV002099819 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840157 | SCV002099820 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840158 | SCV002099821 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840155 | SCV002099823 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137671 | SCV003825532 | uncertain significance | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing |