ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.579G>A (p.Ala193=) (rs142965998)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713811 SCV000844448 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190979 SCV000245866 likely benign Treacher Collins syndrome 1 no assertion criteria provided not provided
Illumina Clinical Services Laboratory,Illumina RCV000303846 SCV000455289 likely benign Treacher Collins Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251592 SCV000306815 benign not specified criteria provided, single submitter clinical testing

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