Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213675 | SCV000269991 | likely benign | not specified | 2016-01-15 | criteria provided, single submitter | clinical testing | p.Ala141Ala in Exon 5 of ATP6V1B1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 14/66540 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs141969350). |
Counsyl | RCV000666950 | SCV000791327 | likely benign | Renal tubular acidosis with progressive nerve deafness | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000839949 | SCV000981862 | likely benign | not provided | 2021-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000839949 | SCV001058669 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing |