Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001297823 | SCV001486857 | benign | Adams-Oliver syndrome 5 | 2023-09-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004531081 | SCV004104378 | uncertain significance | NOTCH1-related disorder | 2023-08-15 | criteria provided, single submitter | clinical testing | The NOTCH1 c.1384C>G variant is predicted to result in the amino acid substitution p.Gln462Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139412261-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |