ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)

gnomAD frequency: 0.00001  dbSNP: rs758398301
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643511 SCV000765198 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-19 criteria provided, single submitter clinical testing
GeneDx RCV001566439 SCV001789954 uncertain significance not provided 2021-04-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001566439 SCV003823624 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150315 SCV003838566 uncertain significance Cardiomyopathy 2021-10-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323653 SCV004029882 uncertain significance not specified 2023-07-30 criteria provided, single submitter clinical testing

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