Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002953570 | SCV003275668 | benign | Adams-Oliver syndrome 5 | 2022-12-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004536477 | SCV004113253 | uncertain significance | NOTCH1-related disorder | 2023-02-16 | criteria provided, single submitter | clinical testing | The NOTCH1 c.2387C>T variant is predicted to result in the amino acid substitution p.Ala796Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139407553-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Mayo Clinic Laboratories, |
RCV003481353 | SCV004225190 | uncertain significance | not provided | 2022-11-02 | criteria provided, single submitter | clinical testing | PP2 |