Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002229766 | SCV002512120 | benign | Nonsyndromic genetic hearing loss | 2021-06-15 | reviewed by expert panel | curation | The filtering allele frequency (the lower threshold of the 95% CI of 511/11092) of the p.Arg746Ser variant in the MYO15A gene is 4.27% for African chromosomes (including 8 homozygous observations) by gnomAD, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1). Additionally, computational prediction analysis using the metapredictor tool REVEL suggests that the variant may not impact the protein (BP4). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel : BA1, BP4. |
Laboratory for Molecular Medicine, |
RCV000220411 | SCV000269320 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Arg746Ser in Exon 02 of MYO15A: This variant is not expected to have clinical si gnificance because it has been identified in 2.6% (42/1612) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs79760961). |
Eurofins Ntd Llc |
RCV000220411 | SCV000343248 | benign | not specified | 2016-07-08 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000428684 | SCV000510905 | likely benign | not provided | 2016-07-22 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000220411 | SCV000717184 | benign | not specified | 2017-12-18 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000428684 | SCV001115790 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |