Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001731674 | SCV000515126 | likely benign | not provided | 2021-09-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26582918) |
Invitae | RCV000470667 | SCV000555459 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000422837 | SCV000710959 | benign | not specified | 2017-08-10 | criteria provided, single submitter | clinical testing | p.Pro10937Pro in exon 168 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in (0.4%) 156/31978 La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gmomad.broad institute.org; dbSNP rs367958537). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000422837 | SCV001337708 | benign | not specified | 2020-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840513 | SCV002101200 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840514 | SCV002101201 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840515 | SCV002101202 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840512 | SCV002101204 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379306 | SCV002692928 | likely benign | Cardiovascular phenotype | 2018-07-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002502486 | SCV002806679 | 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 | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001731674 | SCV004152436 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | TTN: BP4 |