Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001372282 | SCV001568906 | likely benign | Primary ciliary dyskinesia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003416291 | SCV004109190 | uncertain significance | DNAH5-related condition | 2023-03-10 | criteria provided, single submitter | clinical testing | The DNAH5 c.477C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to create a cryptic splice donor site based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, such computer prediction programs are imperfect. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-13922399-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001372282 | SCV002081825 | uncertain significance | Primary ciliary dyskinesia | 2020-03-17 | no assertion criteria provided | clinical testing |