ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)

gnomAD frequency: 0.00260  dbSNP: rs112332762
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864274 SCV001005053 benign Treacher Collins syndrome 1 2025-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573709 SCV003916996 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TCOF1: BP4, BS1
Mayo Clinic Laboratories, Mayo Clinic RCV001573709 SCV004227152 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing BS1
Ambry Genetics RCV004668874 SCV005168253 likely benign Inborn genetic diseases 2024-05-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001573709 SCV005221256 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003891888 SCV000306808 benign TCOF1-related disorder 2019-11-19 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573709 SCV001799983 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573709 SCV001971784 likely benign not provided no assertion criteria provided clinical testing

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