ClinVar Miner

Submissions for variant NM_003289.3(TPM2):c.773-5_773-3dupCCC (rs35401252)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613573 SCV000730016 likely benign not specified 2017-05-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000333376 SCV000479898 uncertain significance Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385600 SCV000479899 uncertain significance Nemaline Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000633577 SCV000754823 benign Distal arthrogryposis type 1A 2017-11-28 criteria provided, single submitter clinical testing

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