Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037119 | SCV000060776 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Ala242Ala in Exon 06 of ILDR1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 5.1% (6/118) of chro mosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/pro jects/SNP; rs114464909)." |
Gene |
RCV000958700 | SCV000723700 | benign | not provided | 2019-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000958700 | SCV001105572 | benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000958700 | SCV001144237 | benign | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing |