Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000721067 | SCV000851952 | likely pathogenic | History of neurodevelopmental disorder | 2013-05-23 | criteria provided, single submitter | clinical testing | This variant was observed to be a likely the results of a de novo change or germline mosaicism in one family tested by our laboratory (current case). This variant has not been detected in conjunction with a pathogenic mutation to date. Allele frequency data in population-based cohorts is not currently available. This nucleotide position is completely conserved on sequence alignment.This splice prediction software does predict a deleterious effect on splicing.This splice prediction software does predict a deleterious effect on splicing. |