ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5855A>G (p.His1952Arg)

dbSNP: rs572691153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172470 SCV000055107 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000471938 SCV000542547 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000172470 SCV001872893 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing

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