ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20892G>A (p.Thr6964=) (rs727504623)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248020 SCV000318973 likely benign Cardiovascular phenotype 2013-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000155882 SCV000730344 likely benign not specified 2017-03-02 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 RCV000469406 SCV000555430 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155882 SCV000205593 likely benign not specified 2013-08-11 criteria provided, single submitter clinical testing Thr5720Thr in exon 69 TTN: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Thr5720Thr in exon 69 TTN (allele frequency = n/ a)

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