ClinVar Miner

Submissions for variant NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)

dbSNP: rs79625057
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597738 SCV000704094 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000597738 SCV001913097 benign not provided 2019-07-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279377 SCV002564846 likely benign Osteogenesis imperfecta 2020-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597738 SCV003486390 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing

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