ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.130-9T>C

gnomAD frequency: 0.00014  dbSNP: rs147406641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477256 SCV000561257 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001613312 SCV001835452 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150231 SCV003838200 uncertain significance Cardiomyopathy 2022-04-20 criteria provided, single submitter clinical testing

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