ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.426G>T (p.Leu142=)

gnomAD frequency: 0.00353  dbSNP: rs79074016
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445157 SCV000521552 benign not provided 2017-03-22 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 RCV001080382 SCV000641800 benign Baraitser-Winter syndrome 1 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001080382 SCV002524401 benign Baraitser-Winter syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253432 SCV002524402 benign Developmental malformations-deafness-dystonia syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000445157 SCV002563934 benign not provided 2024-02-01 criteria provided, single submitter clinical testing ACTB: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002488913 SCV002811853 likely benign Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 2021-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972607 SCV004790213 benign ACTB-related condition 2019-04-22 criteria provided, single submitter 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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573551 SCV001799590 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000445157 SCV001957441 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000445157 SCV001972584 likely benign not provided no assertion criteria provided clinical testing

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