Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040031 | SCV000063722 | uncertain significance | not specified | 2011-12-01 | criteria provided, single submitter | clinical testing | The Asp7278Asn variant (TTN) has not been reported in the literature but has bee n identified by our laboratory in 1 individual with ARVC who also carried a like ly pathogenic variant in the PKP2 gene. Aspartic acid (Asp) at position 7278) is moderately conserved in evolution, which does not argue strongly for or against a pathogenic role. Computational predictions are unavailable. In summary, addi tional data is needed to determine the clinical significance of this variant. |
Invitae | RCV000473874 | SCV000542596 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726850 | SCV000703616 | uncertain significance | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496642 | SCV002814171 | 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 | 2021-10-19 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000726850 | SCV003823592 | uncertain significance | not provided | 2022-10-20 | criteria provided, single submitter | clinical testing |