Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000325914 | SCV000420127 | uncertain significance | Limb-girdle muscular dystrophy, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000363355 | SCV000420128 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000266422 | SCV000420129 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000323739 | SCV000420130 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000376093 | SCV000420131 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000284078 | SCV000420132 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000517109 | SCV000615969 | uncertain significance | not specified | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Ai |
RCV002223203 | SCV002501117 | uncertain significance | not provided | 2022-01-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV002223203 | SCV003824864 | uncertain significance | not provided | 2019-03-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004021784 | SCV005020731 | uncertain significance | Cardiovascular phenotype | 2023-11-13 | criteria provided, single submitter | clinical testing | The c.76729_76731delCCT variant (also known as p.P25577del) is located in coding exon 185 of the TTN gene. This variant results from an in-frame CCT deletion at nucleotide positions 76729 to 76731. This results in the in-frame deletion of a proline at codon 25577. This alteration, noted as NM_001267550.1: p.P34642del, has been reported in a dilated cardiomyopathy (DCM) cohort (Mazzarotto F et al. Circulation, 2020 Feb;141:387-398). This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |