ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1419dup (p.Glu474Ter)

dbSNP: rs2095890370
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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 RCV001171140 SCV001333824 likely pathogenic Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing

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