ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) (rs142336788)

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Total submissions: 4
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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 RCV000172143 SCV000054859 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Athena Diagnostics Inc RCV000516530 SCV000615983 uncertain significance not specified 2016-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000172143 SCV000714922 likely benign not provided 2019-09-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000642924 SCV000764611 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-17 criteria provided, single submitter clinical testing

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