ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.564-11G>A (rs532254032)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771790 SCV000904477 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000152118 SCV000209295 benign not specified 2014-07-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000397456 SCV000393213 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306367 SCV000393214 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152118 SCV000200803 uncertain significance not specified 2013-04-21 criteria provided, single submitter clinical testing The 564-11G>A variant in TPM1 has not been reported in individuals with cardiomy opathy. Data from large population studies is insufficient to assess the frequen cy of this variant. This variant is located in the 3' splice region. Computation al tools do not suggest an impact to splicing, though this information is not pr edictive enough to rule out pathogenicity. Additional information is needed to f ully assess the clinical significance of this variant.

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