ClinVar Miner

Submissions for variant NM_001025295.3(IFITM5):c.384C>T (p.Asp128=)

gnomAD frequency: 0.00182  dbSNP: rs144153945
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 RCV000918026 SCV001063323 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279636 SCV002564852 benign Osteogenesis imperfecta 2020-08-12 criteria provided, single submitter clinical testing

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