ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile)

gnomAD frequency: 0.00814  dbSNP: rs75583421
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654886 SCV000776790 benign Treacher Collins syndrome 1 2025-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730519 SCV000858261 benign not specified 2017-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001573214 SCV001886911 benign not provided 2020-03-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28065470)
CeGaT Center for Human Genetics Tuebingen RCV001573214 SCV004699371 benign not provided 2024-10-01 criteria provided, single submitter clinical testing TCOF1: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573214 SCV001798734 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573214 SCV001975796 likely benign not provided no assertion criteria provided clinical testing

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