ClinVar Miner

Submissions for variant NM_003665.4(FCN3):c.750C>T (p.His250=)

gnomAD frequency: 0.00249  dbSNP: rs28385652
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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 RCV000881717 SCV001024908 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495346 SCV002799431 likely benign Immunodeficiency due to ficolin3 deficiency 2022-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881717 SCV004123639 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FCN3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000881717 SCV005282729 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000881717 SCV001929205 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000881717 SCV001972429 likely benign not provided no assertion criteria provided clinical testing

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