ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys)

gnomAD frequency: 0.00016  dbSNP: rs373999037
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883977 SCV001027325 benign Leukocyte adhesion deficiency 3 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718786 SCV005316800 benign not provided criteria provided, single submitter not provided

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