ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) (rs377334665)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184806 SCV000237524 likely benign not specified 2017-10-17 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.
Invitae RCV000228035 SCV000286825 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2015-12-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731480 SCV000859304 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769949 SCV000901375 uncertain significance Cardiomyopathy 2017-02-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000184806 SCV000966549 likely benign not specified 2018-08-29 criteria provided, single submitter clinical testing The p.Thr21877Ile variant in TTN is classified as likely benign because it has b een identified in 0.02% (25/125770) of European chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 202848). ACMG/AMP Criteria applied: BS1, PP3.
Athena Diagnostics Inc RCV000731480 SCV001146480 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing

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