Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215336 | SCV000269084 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Ser690Ser in Exon 10 of ESPN: 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 0.8% (53/7014) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs142850918). |
Gene |
RCV000971842 | SCV000717966 | benign | not provided | 2019-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000971842 | SCV001119513 | benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000215336 | SCV001477231 | benign | not specified | 2020-03-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000971842 | SCV001501862 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ESPN: BS2 |
ARUP Laboratories, |
RCV000971842 | SCV002049828 | benign | not provided | 2020-11-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503840 | SCV002810148 | likely benign | Autosomal recessive nonsyndromic hearing loss 36; Usher syndrome, type 1M | 2021-08-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927901 | SCV004744568 | benign | ESPN-related condition | 2021-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |