ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1317G>A (p.Gln439=)

gnomAD frequency: 0.00178  dbSNP: rs72920390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625036 SCV000743589 likely benign Leukocyte adhesion deficiency 3 2017-09-06 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625036 SCV000744885 likely benign Leukocyte adhesion deficiency 3 2017-10-31 criteria provided, single submitter clinical testing
Invitae RCV000625036 SCV000768518 benign Leukocyte adhesion deficiency 3 2024-01-31 criteria provided, single submitter clinical testing

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