ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)

gnomAD frequency: 0.00051  dbSNP: rs115150240
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726382 SCV000237926 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Invitae RCV000467913 SCV000542332 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-22 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000726382 SCV000701382 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726382 SCV001152583 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000595276 SCV001477103 benign not specified 2020-06-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000726382 SCV001715742 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing

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