ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) (rs72677221)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152351 SCV000114393 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152351 SCV000201263 benign not specified 2018-04-18 criteria provided, single submitter clinical testing p.Ala12450Val in exon 193 of TTN: This variant is classified as benign because i t has been identified in 0.5% (198/34230) of Latino chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs72677221) . ACMG/AMP Criteria applied: BA1.
GeneDx RCV000152351 SCV000237180 likely benign not specified 2017-08-25 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 RCV000474807 SCV000555216 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152351 SCV000616087 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618391 SCV000736568 likely benign Cardiovascular phenotype 2016-04-25 criteria provided, single submitter clinical testing Other strong data supporting benign classification

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