Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723727 | SCV000111406 | uncertain significance | not provided | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723727 | SCV000241921 | likely benign | not provided | 2020-10-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082855 | SCV000562371 | likely benign | Pitt-Hopkins-like syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515350 | SCV000611417 | uncertain significance | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316231 | SCV000850043 | uncertain significance | Inborn genetic diseases | 2018-07-25 | criteria provided, single submitter | clinical testing | The p.P108S variant (also known as c.322C>T), located in coding exon 1 of the NRXN1 gene, results from a C to T substitution at nucleotide position 322. The proline at codon 108 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Illumina Laboratory Services, |
RCV001082855 | SCV001302136 | uncertain significance | Pitt-Hopkins-like syndrome 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Prevention |
RCV003935030 | SCV004753799 | likely benign | NRXN1-related condition | 2023-07-06 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Centre de Biologie Pathologie Génétique, |
RCV001251858 | SCV001427603 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |