Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000474761 | SCV000542762 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-12-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533148 | SCV004116819 | uncertain significance | TTN-related disorder | 2023-02-22 | criteria provided, single submitter | clinical testing | The TTN c.85420C>T variant is predicted to result in the amino acid substitution p.Arg28474Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0057% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179425439-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ce |
RCV003437204 | SCV004150248 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |