Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000605831 | SCV000732307 | benign | not specified | 2017-08-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001518645 | SCV001727380 | benign | Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001662659 | SCV001876556 | benign | Autosomal recessive nonsyndromic hearing loss 66 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001662658 | SCV001876557 | benign | Nephronophthisis 19 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001662660 | SCV001876558 | benign | Isolated neonatal sclerosing cholangitis | 2021-07-30 | criteria provided, single submitter | clinical testing |