ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) (rs746956869)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215041 SCV000271059 likely benign not specified 2015-08-13 criteria provided, single submitter clinical testing p.Thr19205Thr in exon 261 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 2/10280 South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726152 SCV000342469 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV001079299 SCV000555438 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768961 SCV000900334 likely benign Cardiomyopathy 2016-08-02 criteria provided, single submitter clinical testing

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