ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) (rs369508943)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185416 SCV000238324 uncertain significance not specified 2016-10-26 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770073 SCV000901499 uncertain significance Cardiomyopathy 2019-02-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993401 SCV001146343 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000993401 SCV001153042 likely benign not provided 2017-03-01 criteria provided, single submitter clinical testing

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