ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) (rs56726774)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241671 SCV000307139 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000241671 SCV000340457 benign not specified 2016-03-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277109 SCV000414822 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333324 SCV000483851 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385324 SCV000483852 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274548 SCV000483853 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327325 SCV000483854 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000241671 SCV000538800 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
Invitae RCV000277109 SCV001730240 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001709534 SCV001936590 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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