ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys) (rs77496539)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154944 SCV000204626 likely benign not specified 2014-10-02 criteria provided, single submitter clinical testing p.Met12959Lys in exon 199 of TTN: This variant is not expected to have clinical significance because it has been identified in 2.8% (5/178) of Japanese chromoso mes by the 1000 Genomes Project (dbSNP rs77496539).
GeneDx RCV000154944 SCV000535908 likely benign not specified 2017-01-12 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 RCV000868562 SCV001009905 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing

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