ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2280C>T (p.Val760=) (rs727505021)

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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 RCV000156445 SCV000206164 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing Val760Val in exon 14 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
GeneDx RCV000156445 SCV000236671 benign not specified 2014-12-19 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 RCV000473743 SCV000555030 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617670 SCV000735268 likely benign Cardiovascular phenotype 2016-01-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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