Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151346 | SCV000199320 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | 2229+13G>T in Intron 18 of MYH9: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 1.6% (59/3738) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs139146113). |
Gene |
RCV001560621 | SCV001783073 | likely benign | not provided | 2018-08-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001560621 | SCV002400676 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478430 | SCV002797466 | benign | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 | 2021-10-13 | criteria provided, single submitter | clinical testing |