Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554372 | SCV000643230 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481646 | SCV002788637 | 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 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000509322 | SCV003824794 | uncertain significance | not provided | 2022-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004527616 | SCV004105934 | uncertain significance | TTN-related disorder | 2023-06-02 | criteria provided, single submitter | clinical testing | The TTN c.4700T>C variant is predicted to result in the amino acid substitution p.Ile1567Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179641990-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Genome |
RCV000509322 | SCV000606997 | not provided | not provided | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |