ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) (rs34368668)

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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 RCV000117748 SCV000614172 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426858 SCV000511234 likely benign not provided 2016-10-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000117748 SCV000523394 benign not specified 2016-03-11 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.
Genetic Services Laboratory, University of Chicago RCV000117748 SCV000152001 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Invitae RCV000529929 SCV000640721 benign Nemaline myopathy 2 2017-12-26 criteria provided, single submitter clinical testing

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