ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86910C>T (p.Gly28970=) (rs397517736)

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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 RCV000040728 SCV000064419 likely benign not specified 2012-11-21 criteria provided, single submitter clinical testing Gly26402Gly in exon 276 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 w ithin the splice consensus sequence. Gly26402Gly in exon 276 of TTN (allele fre quency= n/a)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727331 SCV000707597 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV001490570 SCV001695139 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000727331 SCV001794099 likely benign not provided 2020-05-08 criteria provided, single submitter clinical testing

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