ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr)

gnomAD frequency: 0.00072  dbSNP: rs201458471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001416575 SCV001618758 likely benign Treacher Collins syndrome 1 2023-06-09 criteria provided, single submitter clinical testing
GeneDx RCV001713087 SCV001940262 benign not provided 2020-03-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28065470)

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