ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23477T>C (p.Val7826Ala)

gnomAD frequency: 0.00005  dbSNP: rs200663337
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593092 SCV000708241 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000593092 SCV003820243 uncertain significance not provided 2022-03-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000593092 SCV004225903 uncertain significance not provided 2022-03-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486889 SCV004239862 likely benign Cardiomyopathy 2023-04-19 criteria provided, single submitter clinical testing

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