Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV004017523 | SCV000272734 | uncertain significance | not provided | 2023-02-06 | criteria provided, single submitter | clinical testing | The p.Ser20265Leu variant in TTN was identified in 1 individual with dilated cardiomyopathy (DCM; LMM data) and was also been reported by other clinical laboratories in ClinVar (Variation ID 229498). It was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |
Fulgent Genetics, |
RCV002485405 | SCV002777427 | 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 | 2021-12-27 | criteria provided, single submitter | clinical testing |