ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.120G>A (p.Pro40=)

gnomAD frequency: 0.00001  dbSNP: rs766934253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001461090 SCV001664975 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704578 SCV005214411 likely benign not provided criteria provided, single submitter not provided

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