Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214270 | SCV000269218 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ala255Ala in exon 9 of LARS2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.5% (67/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs116272561). |
Gene |
RCV000756299 | SCV000520682 | likely benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756299 | SCV000884068 | benign | not provided | 2022-03-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000756299 | SCV001115431 | benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907793 | SCV004726586 | benign | LARS2-related condition | 2019-09-23 | 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). |