ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2988+2T>C

dbSNP: rs1792307406
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250570 SCV001425427 pathogenic Cystic fibrosis 2020-04-27 criteria provided, single submitter clinical testing This CFTR variant has been previously reported in a patient with cystic fibrosis. It is absent from ClinVar and a large population dataset. c.2988+2T>C alters a canonical splice donor site and is predicted to cause abnormal gene splicing. We consider this variant to be pathogenic.

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