ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1766+2T>C (rs1554389062)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674906 SCV000800317 likely pathogenic Cystic fibrosis 2018-06-05 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000674906 SCV001167245 pathogenic Cystic fibrosis 2019-10-16 criteria provided, single submitter clinical testing This CFTR variant has been identified in a patients with cystic fibrosis who also have a second disease-causing CFTR variant. It is absent from large population databases. This variant destroys the canonical splice donor site of exon 13 (legacy exon 12) and is predicted to cause abnormal gene splicing. We consider this variant to be pathogenic.

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