ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58653T>C (p.Ile19551=) (rs727504980)

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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 RCV000156395 SCV000206113 likely benign not specified 2014-03-19 criteria provided, single submitter clinical testing Ile16983Ile in exon 247 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Ile16983Ile in exon 247 of TTN (allele fre quency = n/a)
Invitae RCV000728474 SCV000555339 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728474 SCV000856053 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing
Invitae RCV001498359 SCV001703109 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-12-10 criteria provided, single submitter clinical testing

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