ClinVar Miner

Submissions for variant NM_000432.3(MYL2):c.431_432del (p.Pro144fs) (rs1566147422)

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Total submissions: 4
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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 RCV000770390 SCV000901831 likely pathogenic Cardiomyopathy 2018-10-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770390 SCV001358331 uncertain significance Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Department of Pediatrics,The University of Tokyo RCV001507317 SCV001712278 pathogenic Congenital myopathy with fiber type disproportion 2021-05-27 criteria provided, single submitter clinical testing
Garg Lab, Nationwide Children's Hospital RCV001089865 SCV001245294 pathogenic Familial hypertrophic cardiomyopathy 10 2020-03-17 no assertion criteria provided research The variant is observed to be pathogenic only if homozygous, at least for the infantile presentation, and not pathogenic (or weakly expressed with no obvious disease) if heterozygous

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