ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) (rs121908768)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000759769 SCV000331527 pathogenic not provided 2013-11-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000047290 SCV000697058 pathogenic Cystic fibrosis 2016-12-28 criteria provided, single submitter clinical testing Variant summary: The CFTR c.935_937delTCT (p.Phe312del) variant, alternatively also known as deltaF311, involves the deletion of three conserved nucleotides and results into in-frame deletion of one phenyl alanine from a repetitive sequence of three phenyl analine. The variant is located in ABC transporter type 1, transmembrane domain of the protein (InterPro). This variant was found in 5/121018 control chromosomes at a frequency of 0.0000413, which does not exceed the estimated m maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant is widely reported as pathogenic variant in literature and has been reported in several CF patients, mainly in African American and Hispanic origin, with concordant genotypes. Multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759769 SCV000889318 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
Counsyl RCV000047290 SCV001132361 likely pathogenic Cystic fibrosis 2017-05-26 no assertion criteria provided clinical testing

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