Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000131170 | SCV000186116 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Invitae | RCV000205676 | SCV000259796 | likely benign | Microcephaly, normal intelligence and immunodeficiency | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000590607 | SCV000518617 | likely benign | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29368341) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590607 | SCV000697950 | uncertain significance | not provided | 2016-12-22 | criteria provided, single submitter | clinical testing | Variant summary: The NBN c.171+4T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict strengthen effect on a canonical splicing donor site, and ESEfinder predicts change of binding site for SR055. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/121362 control chromosomes at a frequency of 0.0000247, which does not exceed the estimated maximal expected allele frequency of a pathogenic NBN variant (0.0025). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Counsyl | RCV000205676 | SCV000789324 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2017-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000590607 | SCV000806416 | likely benign | not provided | 2017-03-17 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000205676 | SCV000838319 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000205676 | SCV002045985 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000131170 | SCV002536616 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-08 | criteria provided, single submitter | curation |