ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr)

dbSNP: rs886050415
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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 RCV000314298 SCV000385888 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371330 SCV000385889 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269554 SCV000385890 uncertain significance Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003320150 SCV000385891 uncertain significance Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365508 SCV000385892 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273222 SCV000385893 uncertain significance MYH7-related skeletal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788312 SCV000927373 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing

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