ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1917G>A (p.Thr639=)

gnomAD frequency: 0.00396  dbSNP: rs150686744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174955 SCV000226362 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000527694 SCV000647842 benign Leukocyte adhesion deficiency 3 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718089 SCV005316808 benign not provided criteria provided, single submitter not provided

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