Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152177 | SCV000200909 | uncertain significance | not specified | 2014-01-02 | criteria provided, single submitter | clinical testing | The Asp29368Asn variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of the Asp29368Asn variant. |
Invitae | RCV000233187 | SCV000286935 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-01-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732253 | SCV000860178 | uncertain significance | not provided | 2018-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490668 | SCV002781574 | 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 | 2021-09-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000732253 | SCV003821209 | uncertain significance | not provided | 2023-09-24 | criteria provided, single submitter | clinical testing |