Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643846 | SCV000765533 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508485 | SCV001714670 | uncertain significance | not provided | 2019-09-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798944 | SCV002043113 | uncertain significance | Cardiomyopathy | 2021-05-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271543 | SCV002556179 | uncertain significance | not specified | 2022-06-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386072 | SCV002694205 | uncertain significance | Cardiovascular phenotype | 2020-01-07 | criteria provided, single submitter | clinical testing | The p.R3219S variant (also known as c.9657A>C), located in coding exon 40 of the TTN gene, results from an A to C substitution at nucleotide position 9657. The arginine at codon 3219 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002477427 | SCV002775101 | 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 | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001508485 | SCV003823009 | uncertain significance | not provided | 2020-09-21 | criteria provided, single submitter | clinical testing |