ClinVar Miner

Submissions for variant NM_003018.4(SFTPC):c.413C>A (p.Thr138Asn) (rs4715)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151856 SCV000200333 benign not specified 2013-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387624 SCV000473015 benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289134 SCV000473016 benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311252 SCV000484320 likely benign Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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