ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) (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 Clinical Services Laboratory,Illumina RCV000314298 SCV000385888 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371330 SCV000385889 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269554 SCV000385890 uncertain significance Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308553 SCV000385891 uncertain significance Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365508 SCV000385892 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273222 SCV000385893 uncertain significance Myopathy, distal, 1 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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