ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) (rs374509926)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040646 SCV000064337 likely benign not specified 2012-09-01 criteria provided, single submitter clinical testing Asp2391Asp in exon 31 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. It has been identified in 3/8600 European Amer ican chromosomes by the NHLBI Exome sequencing project in a broad population (ht tp:// Asp2391Asp in exon 31 of TTN (allele frequenc y = 3/8600) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725211 SCV000335020 uncertain significance not provided 2015-09-09 criteria provided, single submitter clinical testing
GeneDx RCV000040646 SCV000530965 likely benign not specified 2016-08-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001088352 SCV000643620 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040646 SCV001879690 likely benign not specified 2020-11-25 criteria provided, single submitter clinical testing

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