ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) (rs727503693)

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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 RCV000152501 SCV000201665 likely benign not specified 2013-08-13 criteria provided, single submitter clinical testing Thr1791Thr in exon 28 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Thr1791Thr in exon 28 of TTN: (allele freque ncy = n/a)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724889 SCV000332165 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing
Invitae RCV000548358 SCV000643344 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000152501 SCV001433118 benign not specified 2020-02-27 criteria provided, single submitter clinical testing

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