ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) (rs115867512)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152297 SCV000201162 likely benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Arg15990His variant in TTN is classified as likely benign because it has been identified in 0.02% (6/24148) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1.
Invitae RCV000226098 SCV000286724 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000835240 SCV000977027 likely benign not provided 2018-04-05 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000835240 SCV001152867 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000835240 SCV001714647 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing

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