Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222331 | SCV000269993 | likely benign | not specified | 2015-06-02 | criteria provided, single submitter | clinical testing | p.Met26Thr in exon 1 of ATP6V1B1: This variant is not expected to have clinical significance because it has been identified in 0.3% (26/8630) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs527738649). |
Gene |
RCV000766323 | SCV000524362 | uncertain significance | not provided | 2022-05-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000766323 | SCV001094811 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003929883 | SCV004756425 | likely benign | ATP6V1B1-related condition | 2023-08-03 | 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). |
Natera, |
RCV001274733 | SCV001459115 | uncertain significance | Renal tubular acidosis with progressive nerve deafness | 2019-12-10 | no assertion criteria provided | clinical testing |