ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) (rs150515843)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250907 SCV000306806 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713810 SCV000844447 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000250907 SCV000862270 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Invitae RCV000190974 SCV001012399 benign Treacher Collins syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000713810 SCV001745413 benign not provided 2020-02-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28065470)
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190974 SCV000245861 unknown significance Treacher Collins syndrome 1 no assertion criteria provided not provided Converted during submission to Uncertain significance.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000713810 SCV001798498 likely benign not provided no assertion criteria provided clinical testing

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