Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598143 | SCV000708338 | uncertain significance | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002476333 | SCV002800739 | 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 | 2021-09-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004527678 | SCV004110044 | uncertain significance | TTN-related disorder | 2023-05-01 | criteria provided, single submitter | clinical testing | The TTN c.24322A>G variant is predicted to result in the amino acid substitution p.Lys8108Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179583605-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |