Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000713984 | SCV000238292 | likely benign | not provided | 2021-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713984 | SCV000844639 | benign | not provided | 2018-06-07 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000713984 | SCV000855122 | uncertain significance | not provided | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000185387 | SCV000967127 | benign | not specified | 2018-10-24 | criteria provided, single submitter | clinical testing | The p.Lys5822Arg variant in TTN is classified as benign because it has been iden tified in 0.18% (66/35238) of Latino chromosomes by gnomAD (http://gnomad.broadi nstitute.org). ACMG/AMP Criteria applied: BA1. |
Invitae | RCV001087209 | SCV001002089 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000713984 | SCV003827388 | likely benign | not provided | 2023-09-25 | criteria provided, single submitter | clinical testing |