Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002629649 | SCV003521824 | benign | Adams-Oliver syndrome 5 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004529227 | SCV004104825 | uncertain significance | NOTCH1-related disorder | 2023-08-09 | criteria provided, single submitter | clinical testing | The NOTCH1 c.6298A>G variant is predicted to result in the amino acid substitution p.Ile2100Val. This variant was reported in an individual with bicuspid aortic valve; however, the authors interpreted the variant as likely benign (Marek Debiec et al. 2022. PubMed ID: 35288444). This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139391893-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |