Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605868 | SCV000711579 | likely benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | p.Leu3Leu in exon 1 of SYNE4: 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 0.2 (72/33578) of La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNP rs373148223). |
Invitae | RCV000948477 | SCV001094689 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000948477 | SCV001769898 | likely benign | not provided | 2021-04-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900364 | SCV004708785 | likely benign | SYNE4-related condition | 2019-09-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |