Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723974 | SCV000231916 | uncertain significance | not provided | 2014-07-18 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000218296 | SCV000271685 | uncertain significance | not specified | 2017-02-23 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Invitae | RCV000226017 | SCV000286970 | benign | Primary ciliary dyskinesia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Center for Personalized Medicine, |
RCV000735289 | SCV000854442 | uncertain significance | Cleft upper lip; Cognitive impairment; Median cleft upper lip; Bifid ribs; Asymmetry of the thorax; Periventricular leukomalacia; Cleft palate | criteria provided, single submitter | clinical testing | ||
Ce |
RCV000723974 | SCV001155048 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001160743 | SCV001322566 | uncertain significance | Primary ciliary dyskinesia 7 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Ambry Genetics | RCV000226017 | SCV002704127 | uncertain significance | Primary ciliary dyskinesia | 2018-07-05 | criteria provided, single submitter | clinical testing | The p.R3491H variant (also known as c.10472G>A), located in coding exon 64 of the DNAH11 gene, results from a G to A substitution at nucleotide position 10472. The arginine at codon 3491 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Fulgent Genetics, |
RCV001160743 | SCV002801340 | uncertain significance | Primary ciliary dyskinesia 7 | 2022-02-24 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV001160743 | SCV003843232 | uncertain significance | Primary ciliary dyskinesia 7 | 2021-01-29 | criteria provided, single submitter | clinical testing | This variant was observed in compound heterozygosity with variant c.1848+1G>T |
Prevention |
RCV003917675 | SCV004727937 | uncertain significance | DNAH11-related condition | 2024-01-09 | criteria provided, single submitter | clinical testing | The DNAH11 c.10472G>A variant is predicted to result in the amino acid substitution p.Arg3491His. This variant has been reported in the homozygous state in an individual with skeletal anomalies and cognitive impairment who also carries a homozygous truncating variant in TMCO1 (Ji et al. 2019. PubMed ID: 30755392). This variant is reported in 0.17% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Gene |
RCV000723974 | SCV001791033 | likely pathogenic | not provided | 2023-08-29 | flagged submission | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30755392, 35586607, 37035737) |
Laboratory of Diagnostic Genome Analysis, |
RCV000723974 | SCV001799037 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000723974 | SCV001967880 | uncertain significance | not provided | no assertion criteria provided | clinical testing |