Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000425000 | SCV000520872 | likely benign | not specified | 2015-11-01 | 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. |
Laboratory for Molecular Medicine, |
RCV000425000 | SCV000538281 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 22/2178=1% |
Genetic Services Laboratory, |
RCV000425000 | SCV000593130 | benign | not specified | 2016-07-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000955623 | SCV001102338 | benign | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990134 | SCV001140951 | benign | Persistent Mullerian duct syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000955623 | SCV004141357 | benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | AMH: BS1, BS2 |
Breakthrough Genomics, |
RCV000955623 | SCV005206369 | likely benign | not provided | criteria provided, single submitter | not provided |