ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln)

gnomAD frequency: 0.00012  dbSNP: rs370516890
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533920 SCV000643615 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-12 criteria provided, single submitter clinical testing
GeneDx RCV000837055 SCV000978904 likely benign not provided 2020-08-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000837055 SCV001714040 uncertain significance not provided 2021-07-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798888 SCV002042631 likely benign Cardiomyopathy 2023-04-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000837055 SCV003825562 uncertain significance not provided 2022-04-06 criteria provided, single submitter clinical testing

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