ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) (rs371973579)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194123 SCV000249270 uncertain significance not specified 2014-04-29 criteria provided, single submitter clinical testing
Invitae RCV000534507 SCV000643423 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000194123 SCV000729583 likely benign not specified 2017-09-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000194123 SCV000967323 likely benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Arg16790Cys variant in TTN is classified as likely benign because it has b een identified in 0.08% (15/18656) of East Asian chromosomes and 0.07% (16/23994 ) of African chromosomes by gnomAD ( ACMG/AMP Criteria applied: BS1, PP3.

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