Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000126052 | SCV000051300 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000154636 | SCV000169542 | benign | not specified | 2014-04-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000154636 | SCV000204310 | benign | not specified | 2013-10-21 | criteria provided, single submitter | clinical testing | Ser3473Asn in exon 44B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 9.1% (52/572) of Asian chromosomes b y the 1000 Genomes Project (dbSNP rs78535378). |
Invitae | RCV001080034 | SCV000555266 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840017 | SCV002100898 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840018 | SCV002100899 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840019 | SCV002100900 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840016 | SCV002100901 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |