Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000120818 | SCV000594578 | uncertain significance | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000728799 | SCV000856414 | uncertain significance | not provided | 2017-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001209805 | SCV001381255 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2023-07-17 | criteria provided, single submitter | clinical testing | |
St. |
RCV001543122 | SCV001761639 | uncertain significance | Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q | 2021-06-24 | criteria provided, single submitter | clinical testing | The ERCC4 c.211T>C (p.Tyr71His) missense change has a maximum subpopulation frequency of 0.084% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/16-14015891-T-C?dataset=gnomad_r2_1). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant has been reported in an individual with a pediatric diffuse intrinsic pontine glioma (PMID: 26580448). To our knowledge, this variant has not been reported in individuals with Fanconi anemia or Xeroderma pigmentosum. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: no criteria met. |
ITMI | RCV000120818 | SCV000084983 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |