Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187174 | SCV000240754 | likely benign | not specified | 2018-03-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genetic Services Laboratory, |
RCV000187174 | SCV000247051 | uncertain significance | not specified | 2015-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000227817 | SCV000289924 | likely benign | Pitt-Hopkins-like syndrome 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515191 | SCV000611461 | uncertain significance | Autism 15; Pitt-Hopkins-like syndrome 1 | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000718421 | SCV000849284 | uncertain significance | History of neurodevelopmental disorder | 2018-01-29 | criteria provided, single submitter | clinical testing | Insufficient evidence |
EGL Genetic Diagnostics, |
RCV000187174 | SCV000856758 | likely benign | not specified | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000515191 | SCV000898622 | uncertain significance | Autism 15; Pitt-Hopkins-like syndrome 1 | 2018-01-11 | criteria provided, single submitter | clinical testing | CNTNAP2 NM_014141.5 exon 8 p.Ser382Asn (c.1145G>A): This variant has not been reported in the literature but is is present in 0.7% (220/34350) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs371839994). This variant is present in ClinVar (Variation ID:205233). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |