ClinVar Miner

Submissions for variant NM_198843.2(SFTPB):c.565G>A (p.Val189Ile) (rs34550459)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224325 SCV000281563 benign not provided 2016-01-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372408 SCV000432325 likely benign Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223574 SCV000269816 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val189Ile in exon 6 of SFTPB: This variant is not expected to have clinical significance because it has been identified in 9.8% (13/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs34550459).

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