Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039369 | SCV000063053 | benign | not specified | 2014-08-11 | criteria provided, single submitter | clinical testing | Ala311Ala in Exon 09A of TMPRSS3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.6% (25/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs145235893). |
ARUP Laboratories, |
RCV001001667 | SCV001159212 | benign | Autosomal recessive nonsyndromic hearing loss 8 | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572380 | SCV001797008 | likely benign | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001572380 | SCV003273044 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |