Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036367 | SCV000060019 | likely benign | not specified | 2012-04-10 | criteria provided, single submitter | clinical testing | Asn279Asn in exon 9 of TPM1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Asn279Asn in exon 9 of TPM1 (allele frequency = n/a) |
Color Diagnostics, |
RCV001192356 | SCV001360405 | likely benign | Cardiomyopathy | 2019-05-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610313 | SCV001841879 | likely benign | not provided | 2020-04-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054588 | SCV002353760 | likely benign | Hypertrophic cardiomyopathy | 2022-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162314 | SCV003890579 | likely benign | Cardiovascular phenotype | 2023-01-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |