ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.491_495del (p.Glu164fs)

dbSNP: rs1592798444
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Total submissions: 1
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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 RCV000770388 SCV000901829 likely pathogenic Cardiomyopathy 2020-10-07 criteria provided, single submitter clinical testing

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