ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1370T>G (p.Ile457Arg) (rs397516103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170513 SCV001333096 uncertain significance Cardiomyopathy 2018-03-27 criteria provided, single submitter clinical testing
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre RCV000679804 SCV000804311 likely pathogenic Hyaline body myopathy 2018-09-04 no assertion criteria provided clinical testing

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