ClinVar Miner

Submissions for variant NM_003665.4(FCN3):c.498G>C (p.Glu166Asp)

gnomAD frequency: 0.00087  dbSNP: rs56405086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496032 SCV002798170 likely benign Immunodeficiency due to ficolin3 deficiency 2022-04-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702281 SCV001931885 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727971 SCV001975850 benign not specified no assertion criteria provided clinical testing

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