Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825812 | SCV000967282 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Glu635Glu in exon 13 of PDZD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.22% (2/906) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs546907305). |
Invitae | RCV000965150 | SCV001112410 | benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000965150 | SCV001813419 | likely benign | not provided | 2020-04-13 | criteria provided, single submitter | clinical testing |