Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000281400 | SCV000334786 | uncertain significance | not provided | 2015-09-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001057033 | SCV001221502 | uncertain significance | Pitt-Hopkins-like syndrome 2 | 2023-05-11 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 283007). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.609_610delinsCA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the NRXN1 protein (p.Lys203_Leu204delinsAsnMet). |
Gene |
RCV000281400 | SCV001815208 | uncertain significance | not provided | 2022-12-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |