ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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).
GeneDx RCV001704125 SCV000237481 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30924900)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000154922 SCV000337673 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468387 SCV000555264 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622225 SCV000737177 likely benign Cardiovascular phenotype 2018-12-26 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Athena Diagnostics Inc RCV000154922 SCV001476367 benign not specified 2019-10-28 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000154922 SCV001923298 benign not specified no assertion criteria provided clinical testing

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