Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155029 | SCV000204712 | benign | not specified | 2015-01-26 | criteria provided, single submitter | clinical testing | p.Ala228Ala in exon 04 of ACTG1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (228/71802) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs143125497). |
Genetic Services Laboratory, |
RCV000155029 | SCV000246319 | likely benign | not specified | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000155029 | SCV000730810 | benign | not specified | 2017-02-13 | 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 | RCV000873903 | SCV001015995 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812133 | SCV001157608 | benign | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001812133 | SCV002498342 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | ACTG1: BP4, BP7, BS1 |
Genome- |
RCV002253249 | SCV002524462 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253248 | SCV002524463 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing |