Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253421 | SCV000314395 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000726433 | SCV000344600 | uncertain significance | not provided | 2016-09-20 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000253421 | SCV000595184 | likely benign | not specified | 2015-10-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000253421 | SCV000711329 | likely benign | not specified | 2017-09-25 | criteria provided, single submitter | clinical testing | p.Ser750Ser in exon 1 of HPS6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% 36/34390 of La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNP rs139161525) |
Invitae | RCV000726433 | SCV001027076 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726433 | SCV001945973 | likely benign | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing |