Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040068 | SCV000063759 | uncertain significance | not specified | 2011-12-19 | criteria provided, single submitter | clinical testing | The Thr8004Asn variant (TTN) has not been previously reported but has been ident ified by our laboratory in 1 individual with HCM (note: the role of TTN in HCM i s currently not understood). Threonine (Thr) at position 8004 is moderately cons erved, which does not provide sufficient evidence to determine if a change would impact the protein. Computational predictions on the impact to the protein are mixed (AlignGVGD = benign, SIFT = pathogenic), though the accuracy of these tool s is unknown. Additional information is needed to fully assess the clinical sign ificance of the Thr8004Asn variant. |
Ambry Genetics | RCV000244039 | SCV000317956 | uncertain significance | Cardiovascular phenotype | 2013-01-13 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Fulgent Genetics, |
RCV002496643 | SCV002812737 | 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 | 2021-08-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430647 | SCV004152504 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | TTN: BP4 |