ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23308G>A (p.Gly7770Arg)

gnomAD frequency: 0.00003  dbSNP: rs374739582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171038 SCV001333707 uncertain significance Cardiomyopathy 2017-11-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507603 SCV001713244 uncertain significance not provided 2019-09-23 criteria provided, single submitter clinical testing
GeneDx RCV001507603 SCV001766711 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001507603 SCV004237034 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing

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