ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.204C>T (p.Thr68=)

dbSNP: rs1891751214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185092 SCV001351244 likely benign Cardiomyopathy 2018-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068400 SCV002429155 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-09-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008512 SCV004844861 likely benign Hypertrophic cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704463 SCV005214409 likely benign not provided criteria provided, single submitter not provided

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