ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)

gnomAD frequency: 0.05626  dbSNP: rs3848618
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249914 SCV000307138 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000249914 SCV000338947 benign not specified 2016-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372873 SCV000414824 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384278 SCV000483855 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289585 SCV000483856 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342185 SCV000483857 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380421 SCV000483858 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000249914 SCV000538801 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000372873 SCV001730241 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001658200 SCV001872457 benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000372873 SCV002647252 benign Primary ciliary dyskinesia 2016-07-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001658200 SCV005206065 likely benign not provided criteria provided, single submitter not provided

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