ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) (rs113299143)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194722 SCV000249136 likely benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Invitae RCV000190970 SCV000658947 benign Treacher Collins syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190970 SCV000245857 likely benign Treacher Collins syndrome 1 no assertion criteria provided not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572728 SCV001797536 likely benign not provided no assertion criteria provided clinical testing

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