Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038997 | SCV000062675 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Leu3160Phe in Exon 57 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 0.8% (54/6912) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs140029076). |
Eurofins Ntd Llc |
RCV000038997 | SCV000231404 | benign | not specified | 2014-10-16 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000513683 | SCV000610588 | likely benign | not provided | 2017-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000513683 | SCV000730610 | benign | not provided | 2019-06-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17546645, 25792667, 27018795, 25262649, 24498627, 24130743, 20440071, 27375115, 25587757, 30245029) |
Ce |
RCV000513683 | SCV000892523 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | MYO15A: BS2 |
Invitae | RCV000513683 | SCV001104365 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989772 | SCV001140325 | likely benign | Autosomal recessive nonsyndromic hearing loss 3 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000989772 | SCV001283187 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 3 | 2018-03-08 | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Molecular Diagnosis Center for Deafness | RCV000989772 | SCV001984971 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 3 | criteria provided, single submitter | clinical testing |