Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455963 | SCV000538988 | uncertain significance | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Limited evidence for the gene to be associated with PCD. Does not meet criteria for reporting. |
Ambry Genetics | RCV002522748 | SCV003560853 | uncertain significance | Inborn genetic diseases | 2022-04-22 | criteria provided, single submitter | clinical testing | The c.8053G>C (p.A2685P) alteration is located in exon 55 (coding exon 54) of the DNAH8 gene. This alteration results from a G to C substitution at nucleotide position 8053, causing the alanine (A) at amino acid position 2685 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |