Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000266728 | SCV000334133 | uncertain significance | not provided | 2016-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317802 | SCV000850164 | likely benign | Inborn genetic diseases | 2019-01-26 | 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 | RCV001080228 | SCV001002465 | likely benign | Pitt-Hopkins-like syndrome 2 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000266728 | SCV001882859 | benign | not provided | 2015-09-02 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29619247) |
Center for Genomics, |
RCV003227737 | SCV003924137 | likely benign | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | NRXN1 NM_138735.4 exon 1 p.Gly26dup (c.77_79dup): This variant has been reported in the literature in 1 individual with epilepsy (Friedman 2018 PMID:29619247). This variant is present in 0.1% (15/13472) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-50346870-G-GCGC?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame duplication of 1 Glycine amino acid at position 26 within a repeat region and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |