ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) (rs367958537)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422837 SCV000515126 likely benign not specified 2017-05-30 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 RCV000470667 SCV000555459 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000422837 SCV000710959 benign not specified 2017-08-10 criteria provided, single submitter clinical testing p.Pro10937Pro in exon 168 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in (0.4%) 156/31978 La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gmomad.broad institute.org; dbSNP rs367958537).

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