ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) (rs2365725)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243999 SCV000307125 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363138 SCV000414815 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318056 SCV000483831 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373013 SCV000483832 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278402 SCV000483833 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333407 SCV000483834 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000243999 SCV000538796 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000614095 SCV000744929 benign Ciliary dyskinesia, primary, 2 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000363138 SCV001722424 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001618414 SCV001842934 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614095 SCV000733929 benign Ciliary dyskinesia, primary, 2 no assertion criteria provided clinical testing

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