Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082400 | SCV000114388 | uncertain significance | not provided | 2013-05-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000554228 | SCV000643121 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381406 | SCV002694492 | uncertain significance | Cardiovascular phenotype | 2020-03-06 | criteria provided, single submitter | clinical testing | The c.13363+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 46 in the TTN gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is not predicted to have a deleterious effect on this splice donor site by BDGP, but ESEfinder does not produce a reliable prediction for the nearby native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002483153 | SCV002786949 | 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 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000082400 | SCV003827387 | uncertain significance | not provided | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155071 | SCV003845066 | uncertain significance | not specified | 2023-02-20 | criteria provided, single submitter | clinical testing |