Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150192 | SCV000197113 | benign | not specified | 2015-08-06 | criteria provided, single submitter | clinical testing | p.His122His in exon 2 of BLOC1S3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.7% (35/2034) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs571269735). |
Prevention |
RCV000150192 | SCV000317278 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001515240 | SCV001723271 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001515240 | SCV001770285 | likely benign | not provided | 2020-05-26 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000150192 | SCV002065971 | benign | not specified | 2018-08-06 | criteria provided, single submitter | clinical testing |