Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000892936 | SCV001036846 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000892936 | SCV001468349 | uncertain significance | not provided | 2021-12-08 | criteria provided, single submitter | clinical testing | INO80 NM_017553.2 exon 32 p.Arg1281Gln (c.3842G>A): This variant has not been reported in the literature but is present in 0.1% (223/129174) of European alleles in the Genome Aggregation Database, including one homozygote (https://gnomad.broadinstitute.org/variant/15-41277615-C-T). This variant is present in ClinVar (Variation ID:719735). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore, the clinical significance of this variant is uncertain. |