Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543022 | SCV000643292 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003139804 | SCV003822998 | uncertain significance | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003392386 | SCV004121221 | uncertain significance | TTN-related condition | 2023-04-19 | criteria provided, single submitter | clinical testing | The TTN c.50554C>T variant is predicted to result in the amino acid substitution p.Pro16852Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |