ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) (rs56180593)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440888 SCV000511101 benign not provided 2016-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000193683 SCV000521088 likely benign not specified 2016-05-05 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 RCV000193683 SCV000249135 benign not specified 2017-05-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344632 SCV000455284 likely benign Treacher Collins Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000526149 SCV000658943 benign Treacher Collins syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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