ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1722G>C (p.Leu574=)

gnomAD frequency: 0.00004  dbSNP: rs769738360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882340 SCV001025573 benign Leukocyte adhesion deficiency 3 2024-01-22 criteria provided, single submitter clinical testing

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