Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219993 | SCV000269990 | likely benign | not specified | 2015-06-16 | criteria provided, single submitter | clinical testing | c.368-6C>T in intron 4 of ATP6V1B1: ThisThis variant is not expected to have cli nical significance because a C>T change at this position does not diverge from t he splice consensus sequence and is therefore unlikely to impact splicing. This variant has been identified in (9/65446) of European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200038589). |
Counsyl | RCV000667185 | SCV000791601 | uncertain significance | Renal tubular acidosis with progressive nerve deafness | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000927772 | SCV001073363 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000667185 | SCV001459118 | uncertain significance | Renal tubular acidosis with progressive nerve deafness | 2019-11-11 | no assertion criteria provided | clinical testing |