ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) (rs144327167)

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Total submissions: 4
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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 RCV000514346 SCV000610818 likely benign not provided 2017-06-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591432 SCV000700685 benign not specified 2017-03-31 criteria provided, single submitter clinical testing
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190963 SCV000245850 likely benign Treacher Collins syndrome 1 no assertion criteria provided not provided
Illumina Clinical Services Laboratory,Illumina RCV000355024 SCV000455293 likely benign Treacher Collins Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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