ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.1128A>G (p.Ter376=)

gnomAD frequency: 0.04188  dbSNP: rs11549223
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116230 SCV000150142 benign not specified 2013-03-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000116230 SCV000204335 benign not specified 2013-04-11 criteria provided, single submitter clinical testing X376X in exon 6 of ACTG1: This variant is not expected to have clinical signific ance because it does not alter the termination codon, it is not located within t he splice consensus sequence, it has been identified in 1.3% (113/8600) of Europ ean American chromosomes and 9% (395/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washingt on.edu/EVS/; dbSNP rs11549223)
GeneDx RCV000116230 SCV000516513 benign not specified 2015-11-13 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.
Athena Diagnostics Inc RCV000710407 SCV000840619 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV001512126 SCV001719476 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253216 SCV002524419 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253215 SCV002524420 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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