ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.363+13C>A (rs9910792)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037123 SCV000060780 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 363+13C>A in Intron 03 of ACTG1: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 43.2% (3019/6996) of European American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs9910792).
Eurofins NTD, LLC RCV000037123 SCV000340375 benign not specified 2016-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000037123 SCV000516195 benign not specified 2015-10-15 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.
Nilou-Genome Lab RCV001549229 SCV001769340 benign Baraitser-Winter Syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001549230 SCV001769341 benign Deafness, autosomal dominant 20 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037123 SCV001741033 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000037123 SCV001951245 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037123 SCV001976200 benign not specified no assertion criteria provided clinical testing

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