ClinVar Miner

Submissions for variant NM_213674.1(TPM2):c.772+995dup (rs35401252)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000080087 SCV000309562 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363665 SCV000479896 likely benign Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276094 SCV000479897 likely benign Nemaline Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000080087 SCV000729579 benign not specified 2018-03-16 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.
Mendelics RCV000988183 SCV001137814 benign Distal arthrogryposis type 1A 2019-05-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080087 SCV000111982 benign not specified 2013-01-16 no assertion criteria provided clinical testing
TPM2 homepage - Leiden Muscular Dystrophy pages RCV000128692 SCV000172332 not provided not provided no assertion provided not provided

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