ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75011G>A (p.Arg25004His)

gnomAD frequency: 0.00002  dbSNP: rs909041164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643357 SCV000765044 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171269 SCV001333978 likely benign Cardiomyopathy 2022-07-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139997 SCV003819760 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing

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