ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del)

dbSNP: rs773205979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987623 SCV001137011 benign Treacher Collins syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001732005 SCV001982547 uncertain significance not provided 2021-03-14 criteria provided, single submitter clinical testing Identified in a patient reported to have clinical features of Treacher Collins syndrome (Ellis et al., 2002); however, patient-specific information not provided; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12444270)
Invitae RCV000987623 SCV003504487 likely benign Treacher Collins syndrome 1 2022-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918613 SCV004733399 likely benign TCOF1-related condition 2019-04-29 criteria provided, single submitter 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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