ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57719G>A (p.Arg19240Gln)

gnomAD frequency: 0.00002  dbSNP: rs535940583
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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) RCV000594157 SCV000705330 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798911 SCV002042552 likely benign Cardiomyopathy 2019-12-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000594157 SCV002541943 uncertain significance not provided 2021-07-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000594157 SCV003818521 uncertain significance not provided 2021-05-31 criteria provided, single submitter clinical testing

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