Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155222 | SCV000204908 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Pro865Pro in Exon 25 of MYO6: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (10/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs150876010). |
Gene |
RCV000844404 | SCV000986455 | likely benign | not provided | 2020-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000844404 | SCV001018789 | benign | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001160928 | SCV001322767 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 37 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001160929 | SCV001322768 | benign | Autosomal dominant nonsyndromic hearing loss 22 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |