ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3717+14A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002349047 SCV002620633 uncertain significance Cystic fibrosis 2021-07-26 criteria provided, single submitter clinical testing The c.3717+14A>G intronic variant results from an A to G substitution 14 nucleotides after coding exon 22 in the CFTR gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002349047 SCV004284706 likely benign Cystic fibrosis 2025-01-29 criteria provided, single submitter clinical testing

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