ClinVar Miner

Submissions for variant NC_000011.10:g.47346380G>A

gnomAD frequency: 0.00003  dbSNP: rs201078659
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305886 SCV000372380 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360595 SCV000372381 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396667 SCV000372382 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711908 SCV000726255 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32841044)
Color Diagnostics, LLC DBA Color Health RCV001176816 SCV001340875 likely benign Cardiomyopathy 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000360595 SCV002400994 likely benign Hypertrophic cardiomyopathy 2025-01-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001176816 SCV004239397 uncertain significance Cardiomyopathy 2022-07-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000360595 SCV004818044 likely benign Hypertrophic cardiomyopathy 2023-09-17 criteria provided, single submitter clinical testing

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