Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036207 | SCV000059859 | benign | not specified | 2012-04-27 | criteria provided, single submitter | clinical testing | Leu1945Leu in exon 42 of MYO7A: 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, has been identified in 0.9% (30/3396) of Africa n American chromosomes from a broad population by the NHLBI Exome sequencing pro ject (http://evs.gs.washington.edu/EVS/; dbSNP rs77469944). |
EGL Genetic Diagnostics, |
RCV000036207 | SCV000230564 | benign | not specified | 2015-03-06 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000278156 | SCV000374475 | likely benign | Nonsyndromic Hearing Loss, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000335511 | SCV000374476 | likely benign | Retinitis pigmentosa-deafness syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000406804 | SCV000374477 | likely benign | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing |