ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.1053G>A (p.Leu351=)

dbSNP: rs151321743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038319 SCV000061988 likely benign not specified 2009-04-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770508 SCV000901953 likely benign Cardiomyopathy 2017-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001505380 SCV001710280 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-02-02 criteria provided, single submitter clinical testing

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