ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del)

dbSNP: rs574569798
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224172 SCV000281163 benign not provided 2015-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080977 SCV000658958 benign Treacher Collins syndrome 1 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000224172 SCV001950575 benign not provided 2019-01-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12444270)
CeGaT Center for Human Genetics Tuebingen RCV000224172 SCV005040986 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing TCOF1: PM4:Supporting, BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224172 SCV001799154 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000224172 SCV001963923 likely benign not provided no assertion criteria provided clinical testing

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