ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.1239-8A>G (rs28377509)

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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 RCV000254510 SCV000307133 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324667 SCV000483811 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379486 SCV000483812 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285059 SCV000483813 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321257 SCV000483814 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000254510 SCV000538792 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 RCV000602199 SCV000744927 benign Ciliary dyskinesia, primary, 2 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001520996 SCV001730237 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000602199 SCV001875542 benign Ciliary dyskinesia, primary, 2 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001668470 SCV001882728 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602199 SCV000733927 benign Ciliary dyskinesia, primary, 2 no assertion criteria provided clinical testing

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