Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728237 | SCV000855783 | uncertain significance | not provided | 2017-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000728237 | SCV002552676 | uncertain significance | not provided | 2022-01-21 | criteria provided, single submitter | clinical testing | Reported in a patient with BannayanRileyRuvalcaba syndrome who also harbored an additional missense variant in the TTN gene (Yehia et al., 2017); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29263846) |
Fulgent Genetics, |
RCV002507283 | SCV002812773 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-08-23 | criteria provided, single submitter | clinical testing |