Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000293480 | SCV000468061 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000293480 | SCV000750396 | benign | Primary ciliary dyskinesia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731493 | SCV000859320 | uncertain significance | not provided | 2018-01-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335804 | SCV001529041 | uncertain significance | Primary ciliary dyskinesia 7 | 2018-05-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
New York Genome Center | RCV001335804 | SCV002506650 | uncertain significance | Primary ciliary dyskinesia 7 | 2021-05-27 | criteria provided, single submitter | clinical testing | The inherited heterozygous c.2038G>A (p.Asp680Asn) missense variant identified in the DNAH11 gene has not been reported in affected individuals in the literature. The variant has 0.0007167 allele frequency in the gnomAD(v3) database (109 out of 152078 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the populations represented in that database. In silico tools provide conflicting predictions about potentialpathogenicity of this variant (CADD score = 21.3, REVEL score = 0.066). Based on the available evidence, the inherited heterozygous c.2038G>A(p.Asp680Asn) variant identified in the DNAH11 gene is reported as a variant of uncertain significance. |
Ambry Genetics | RCV000293480 | SCV002720259 | uncertain significance | Primary ciliary dyskinesia | 2018-09-10 | criteria provided, single submitter | clinical testing | The p.D680N variant (also known as c.2038G>A), located in coding exon 12 of the DNAH11 gene, results from a G to A substitution at nucleotide position 2038. The aspartic acid at codon 680 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001335804 | SCV003831704 | uncertain significance | Primary ciliary dyskinesia 7 | 2021-02-18 | criteria provided, single submitter | clinical testing |