Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152635 | SCV000201957 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Cys527Cys in Exon 09 of USH2A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs140331348). |
Gene |
RCV000761708 | SCV000725093 | likely benign | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000761708 | SCV000891891 | uncertain significance | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000761708 | SCV001052381 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing |