ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88983C>T (p.Gly29661=) (rs371678936)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725392 SCV000336581 uncertain significance not provided 2015-10-15 criteria provided, single submitter clinical testing
GeneDx RCV000283983 SCV000730425 likely benign not specified 2017-11-08 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 RCV000643808 SCV000765495 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000283983 SCV000710939 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Gly27093Gly in exon 282 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue nor is it located within the splice consensus sequence. It has been identified in 4/125304 Europea n chromosomes by the Genome Aggregation Database (qnomAD; http://gnomad.broadins titute.org/; dbSNP rs371678936).

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