ClinVar Miner

Submissions for variant NM_003018.4(SFTPC):c.201+14G>A (rs8192327)

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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 RCV000151855 SCV000200332 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 201+14G>A in intron 2 of SFTPC: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 5.7% (486/8512) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs8192327).
Illumina Clinical Services Laboratory,Illumina RCV000303558 SCV000473005 benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358246 SCV000473006 benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407806 SCV000484319 likely benign Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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