ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54314G>A (p.Arg18105His)

gnomAD frequency: 0.00002  dbSNP: rs760383112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535805 SCV000643360 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731131 SCV000858909 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000731131 SCV001794850 likely benign not provided 2020-01-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486868 SCV004239948 likely benign Cardiomyopathy 2023-01-04 criteria provided, single submitter clinical testing

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