ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) (rs541040798)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088556 SCV000764740 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727707 SCV000855055 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV001195179 SCV001365474 benign not specified 2019-12-23 criteria provided, single submitter clinical testing The p.Arg28882Cys variant in TTN is classified as benign because it has been identified in 0.3% (82/30602) of South Asian chromosomes and 3 homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727707 SCV001502335 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing

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