Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Citogenómica y Microarreglos, |
RCV000663360 | SCV000786639 | likely pathogenic | Autistic behavior | 2018-07-16 | criteria provided, single submitter | research | Although this variant was previously reported by 1000 genomes and has a dbSNP identifier as SNV; its frequency and validation are not yet provided, and in other databases such as ExAC, gnomaD, ClinVar, and NHLB, this SNV has not yet been reported. However, according to our criteria, this variant is predicted to produce a shorter protein with a length < 200 amino acids. |