ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) (rs201836227)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622225 SCV000737177 uncertain significance Cardiovascular phenotype 2018-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154922 SCV000337673 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000154922 SCV000237481 likely benign not specified 2017-12-01 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 RCV000468387 SCV000555264 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154922 SCV000204604 benign not specified 2017-10-23 criteria provided, single submitter clinical testing p.Ile20849Thr in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (82/23988) of African chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs201836227). ACMG/AMP Criteria applied: BA1 (Richards 2015).

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