Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058065 | SCV001222604 | likely benign | Pitt-Hopkins-like syndrome 2 | 2023-09-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003393824 | SCV004121250 | uncertain significance | NRXN1-related condition | 2023-04-26 | criteria provided, single submitter | clinical testing | The NRXN1 c.3309G>A variant is not predicted to result in an amino acid change (p.=). which is predicted to create a new splice site (Alamut Visual Plus v.1.6.1). However, computer predictions are not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-50699491-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |