ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del)

dbSNP: rs151344581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000190959 SCV000776786 benign Treacher Collins syndrome 1 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001711488 SCV001944052 benign not provided 2019-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20003452)
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190959 SCV000245846 unknown significance Treacher Collins syndrome 1 no assertion criteria provided not provided Converted during submission to Uncertain significance.

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