ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.364-16T>C (rs852423)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419496 SCV000516194 benign not specified 2015-10-23 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 RCV001516811 SCV001725161 benign Baraitser-Winter syndrome 1 2020-11-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001549056 SCV001769125 benign Developmental malformations-deafness-dystonia syndrome 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001516811 SCV001769126 benign Baraitser-Winter syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000419496 SCV001742140 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000419496 SCV001953121 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000419496 SCV001974594 benign not specified no assertion criteria provided clinical testing

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