Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085404 | SCV000764989 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825689 | SCV000967126 | benign | not specified | 2018-06-04 | criteria provided, single submitter | clinical testing | p.Phe25190Leu in exon 275 of TTN: This variant is classified as benign because i t has been identified in 0.4% (80/18522) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1883231 08). ACMG/AMP Criteria applied: BA1, PP3. |
Center for Advanced Laboratory Medicine, |
RCV000852804 | SCV000995532 | benign | Amyloidogenic transthyretin amyloidosis | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000643302 | SCV001146512 | benign | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293123 | SCV001434113 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Gene |
RCV000643302 | SCV001763754 | likely benign | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing |