ClinVar Miner

Submissions for variant NM_001025295.3(IFITM5):c.91C>A (p.Pro31Thr)

gnomAD frequency: 0.00357  dbSNP: rs146230729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000947305 SCV001093477 benign not provided 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000947305 SCV001776678 likely benign not provided 2021-05-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003647817 SCV004562124 likely benign Osteogenesis imperfecta type 5 2023-11-22 criteria provided, single submitter clinical testing

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