Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039033 | SCV000062711 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Ala1032Thr in Exon 27 of MYO3A: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (56/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs34918608). |
Preventiongenetics, |
RCV000039033 | SCV000312814 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000039033 | SCV000334357 | benign | not specified | 2015-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000970859 | SCV000717008 | benign | not provided | 2018-05-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17344846) |
Invitae | RCV000970859 | SCV001118464 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001104287 | SCV001261139 | benign | Autosomal recessive nonsyndromic hearing loss 30 | 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. |
ARUP Laboratories, |
RCV001104287 | SCV001472012 | benign | Autosomal recessive nonsyndromic hearing loss 30 | 2023-09-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001104287 | SCV002798884 | likely benign | Autosomal recessive nonsyndromic hearing loss 30 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000970859 | SCV003916591 | benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | MYO3A: BS1, BS2 |