Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000600197 | SCV000710971 | likely benign | not specified | 2017-05-31 | criteria provided, single submitter | clinical testing | p.Ala743Thr in exon 14 of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including >10 mammals. I n addition, computational prediction tools do not suggest a high likelihood of i mpact to the protein. This variant has identified in 2/126354 European chromoso mes by the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org /; dbSNP rs370728359). |
Revvity Omics, |
RCV003488406 | SCV004237427 | uncertain significance | not provided | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000157551 | SCV000207297 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2014-04-17 | no assertion criteria provided | clinical testing |