Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Claritas Genomics | RCV000170374 | SCV000222789 | uncertain significance | not specified | 2014-01-06 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000724215 | SCV000224776 | uncertain significance | not provided | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000170374 | SCV000247316 | uncertain significance | not specified | 2014-06-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000384253 | SCV000362904 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000289884 | SCV000362905 | likely benign | COFS syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000344840 | SCV000362906 | likely benign | Cockayne syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724215 | SCV000572239 | uncertain significance | not provided | 2024-06-11 | criteria provided, single submitter | clinical testing | Observed in individuals with colorectal or other cancer (PMID: 28051113, 28050010, 29602769); Reported previously as a likely pathogenic variant in patients with primary ovarian insufficiency (PMID: 36099812); 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: 29784668, 28051113, 29602769, 28050010, 30653986, 34513715, 36099812) |
Fulgent Genetics, |
RCV000515272 | SCV000611388 | uncertain significance | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11 | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000724215 | SCV001012455 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000724215 | SCV001714949 | uncertain significance | not provided | 2022-03-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002515214 | SCV003720000 | likely benign | Inborn genetic diseases | 2022-01-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV000724215 | SCV004127663 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | ERCC6: PP3, BS1, BS2 |
Department of Pathology and Laboratory Medicine, |
RCV000724215 | SCV001548968 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The ERCC6 p.Arg666Cys variant was identified in the literature in 1 of 28 proband chromosomes (frequency: 0.036) from individuals with a positive history of cancer (proband had colon cancer) (Castellanos_2017_PMID:28051113). The variant was identified in dbSNP (ID: rs61760163), LOVD 3.0 and ClinVar (classified as likely benign by Invitae and Illumina, and as uncertain significance by Claritas Genomics, Genetic Services Laboratory University of Chicago, Fulgent Genetics, EGL Genetic Diagnostics and GeneDx). The variant was identified in control databases in 498 of 282720 chromosomes (1 homozygous) at a frequency of 0.001761 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: Latino in 103 of 35438 chromosomes (freq: 0.002906), Other in 20 of 7220 chromosomes (freq: 0.00277), European (non-Finnish) in 318 of 129064 chromosomes (freq: 0.002464), Ashkenazi Jewish in 22 of 10368 chromosomes (freq: 0.002122), African in 16 of 24964 chromosomes (freq: 0.000641), European (Finnish) in 16 of 25116 chromosomes (freq: 0.000637) and South Asian in 3 of 30614 chromosomes (freq: 0.000098), but was not observed in the East Asian population. The p.Arg666 residue is conserved in mammals but not in more distantly related organisms, and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. | |
Laboratory of Diagnostic Genome Analysis, |
RCV000724215 | SCV001798593 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000724215 | SCV001963573 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724215 | SCV001964569 | uncertain significance | not provided | no assertion criteria provided | clinical testing |