ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3191-7C>T

gnomAD frequency: 0.00003  dbSNP: rs373012629
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292654 SCV000372291 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349979 SCV000372292 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403432 SCV000372293 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000349979 SCV000558150 likely benign Hypertrophic cardiomyopathy 2023-09-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187916 SCV001354835 likely benign Cardiomyopathy 2018-12-16 criteria provided, single submitter clinical testing
GeneDx RCV002225581 SCV002504365 likely benign not provided 2019-04-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001187916 SCV004239373 uncertain significance Cardiomyopathy 2023-03-03 criteria provided, single submitter clinical testing

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