Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000616986 | SCV000711492 | likely benign | not specified | 2016-08-31 | criteria provided, single submitter | clinical testing | p.Asp2159Asp in exon 49 of CACNA1D: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 0.2% (20/10152 ) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs375811590). |
Eurofins Ntd Llc |
RCV000727931 | SCV000855444 | uncertain significance | not provided | 2017-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727931 | SCV001081004 | likely benign | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727931 | SCV001812318 | likely benign | not provided | 2020-07-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727931 | SCV004150352 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | CACNA1D: BP4, BP7 |