ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)

gnomAD frequency: 0.00005  dbSNP: rs765274398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828908 SCV000970613 likely benign not provided 2020-02-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170283 SCV001332847 uncertain significance Cardiomyopathy 2019-07-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000828908 SCV002541902 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489920 SCV004241223 uncertain significance not specified 2023-12-17 criteria provided, single submitter clinical testing

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