Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610889 | SCV000712935 | likely benign | not specified | 2017-02-07 | criteria provided, single submitter | clinical testing | c.453+8C>T in intron 4 of GPR98: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/17014 European chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs768784430). |
Invitae | RCV000897500 | SCV001041646 | likely benign | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953010 | SCV004781134 | likely benign | ADGRV1-related condition | 2020-09-02 | 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). |