ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.1623G>A (p.Ala541=) (rs151344570)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000953957 SCV001100558 benign not provided 2017-12-18 criteria provided, single submitter clinical testing
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190971 SCV000245858 likely benign Treacher Collins syndrome 1 no assertion criteria provided not provided

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