ClinVar Miner

Submissions for variant NC_000014.9:g.23408281C>T

gnomAD frequency: 0.00318  dbSNP: rs142094404
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393096 SCV000483466 likely benign MYH7-related skeletal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003320184 SCV000483467 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341222 SCV000483468 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393119 SCV000483469 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310759 SCV000483470 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365436 SCV000483471 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing

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