ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln) (rs547986881)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000291618 SCV000335642 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620979 SCV000736515 likely benign Cardiovascular phenotype 2016-02-25 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Invitae RCV000866023 SCV001007062 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000291618 SCV001365476 benign not specified 2019-12-23 criteria provided, single submitter clinical testing The p.Glu14763Gln variant in TTN is classified as benign because it has been identified in 0.5% (162/29828) of South Asian chromosomes and 5 homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.

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