ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.870-2A>G (rs1290078234)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587438 SCV000697052 likely pathogenic Cystic fibrosis 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The CFTR c.870-2A>G variant involves the alteration of a conserved intronic nucleotide and 5/5 splice prediction tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 114300 control chromosomes (ExAC). Multiple publications have cited the variant in affected individuals, however, with limited information (ie, lack of phenotypic information, co-occurrence, and cosegregation data). The variant of interest has not been reported by clinical diagnostic laboratories, nor has it been functionally assessed. Therefore, until additional information (ie, clinical and functional data) becomes available, the variant of interest has been classified as "likely pathogenic."
Counsyl RCV000587438 SCV001132360 likely pathogenic Cystic fibrosis 2016-12-09 no assertion criteria provided clinical testing

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