ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.2781G>A (p.Gly927=)

gnomAD frequency: 0.00004  dbSNP: rs758585070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003530634 SCV004266718 likely benign Treacher Collins syndrome 1 2023-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003954238 SCV004775299 likely benign TCOF1-related disorder 2019-07-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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