ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) (rs376634193)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205837 SCV000261413 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2015-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253506 SCV000318920 likely benign Cardiovascular phenotype 2020-05-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000298099 SCV000334589 uncertain significance not provided 2015-09-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825259 SCV000966547 likely benign not specified 2019-01-02 criteria provided, single submitter clinical testing The p.Gly32411Ala variant in TTN is classified as likely benign because it has b een identified in 0.01% (18/128300) of European chromosomes by gnomAD (http://gn omad.broadinstitute.org) and was identified in trans with a likely pathogenic va riant. ACMG/AMP Criteria applied: BS1_Supporting, BP2.

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