ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) (rs183047238)

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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 RCV000725305 SCV000335906 uncertain significance not provided 2015-09-27 criteria provided, single submitter clinical testing
Invitae RCV001088673 SCV000643388 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000264622 SCV000711409 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing p.Thr16105Thr in exon 237 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 7/34352 Latino c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org/; dbSNP rs183047238).
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170598 SCV001333187 likely benign Cardiomyopathy 2017-11-17 criteria provided, single submitter clinical testing

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