Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000997591 | SCV001153169 | uncertain significance | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | TTN: PM2 |
Mayo Clinic Laboratories, |
RCV000997591 | SCV002541989 | uncertain significance | not provided | 2021-11-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002400169 | SCV002672250 | likely benign | Cardiovascular phenotype | 2019-05-31 | 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, |
RCV002505518 | SCV002815244 | 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 | 2021-12-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544999 | SCV004770387 | uncertain significance | TTN-related disorder | 2024-02-28 | criteria provided, single submitter | clinical testing | The TTN c.7817C>T variant is predicted to result in the amino acid substitution p.Ala2606Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.058% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |