ClinVar Miner

Submissions for variant NM_003289.3(TPM2):c.773-4_773-3insA (rs1554658501)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000481078 SCV000615823 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000481078 SCV000568098 benign not specified 2016-03-25 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 RCV000293794 SCV000479900 likely benign Nemaline Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318354 SCV000479901 likely benign Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535500 SCV000630179 benign Distal arthrogryposis type 1A 2017-11-28 criteria provided, single submitter clinical testing

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