Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037124 | SCV000060781 | benign | not specified | 2013-01-17 | criteria provided, single submitter | clinical testing | Asp157Asp in exon 4 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and it has been identified in 0.5% (39/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs11549222) |
Labcorp Genetics |
RCV000555623 | SCV000652319 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2025-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000037124 | SCV000728687 | benign | not specified | 2017-02-06 | 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. |
Genome- |
RCV002253203 | SCV002524475 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253202 | SCV002524476 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002262601 | SCV002545983 | likely benign | not provided | 2025-02-01 | criteria provided, single submitter | clinical testing | ACTG1: BP4, BP7 |
Fulgent Genetics, |
RCV000555623 | SCV002803740 | likely benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2021-08-17 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002262601 | SCV003799608 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV002262601 | SCV005253902 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000037124 | SCV000150147 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Prevention |
RCV004549453 | SCV004711145 | benign | ACTG1-related disorder | 2021-01-28 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |