ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1893C>T (p.Ile631=)

gnomAD frequency: 0.00106  dbSNP: rs142025489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174954 SCV000226361 uncertain significance not provided 2014-12-23 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000603085 SCV000744886 likely benign Leukocyte adhesion deficiency 3 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000603085 SCV000768515 likely benign Leukocyte adhesion deficiency 3 2025-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000174954 SCV004132306 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing FERMT3: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000603085 SCV000733080 likely benign Leukocyte adhesion deficiency 3 no assertion criteria provided clinical testing

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