ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) (rs397508818)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589328 SCV000697056 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing Variant summary: The c.926C>G variant affects a conserved nucleotide, resulting in amino acid change from Ala to Gly. 3/5 in-silico tools predict this variant to be damaging. This variant is found in 5/120918 control chromosomes at a frequency of 0.0000414, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0129603). This variant has been reported in two CF patients with elevated sweat chloride levels, one of whom carries F508del in trans. Taken together, this variant was classified as VUS-possibly pathogenic.
Counsyl RCV000577190 SCV000796762 uncertain significance Cystic fibrosis 2017-12-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589328 SCV000858059 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577190 SCV000679512 not provided Cystic fibrosis no assertion provided literature only

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