Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192986 | SCV000247627 | likely benign | not specified | 2015-03-17 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000725826 | SCV000339648 | uncertain significance | not provided | 2016-02-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000725826 | SCV001049714 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530122 | SCV004739246 | uncertain significance | INSR-related disorder | 2023-11-08 | no assertion criteria provided | clinical testing | The INSR c.959C>T variant is predicted to result in the amino acid substitution p.Thr320Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.26% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-7184342-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |