Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088556 | SCV000764740 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727707 | SCV000855055 | uncertain significance | not provided | 2018-03-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195179 | SCV001365474 | benign | not specified | 2019-12-23 | criteria provided, single submitter | clinical testing | The p.Arg28882Cys variant in TTN is classified as benign because it has been identified in 0.3% (82/30602) of South Asian chromosomes and 3 homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. |