ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1209+80G>A

gnomAD frequency: 0.00008  dbSNP: rs948980243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665651 SCV000789806 uncertain significance Cystic fibrosis 2017-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665651 SCV001609670 likely benign Cystic fibrosis 2022-10-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257922 SCV002529670 uncertain significance Hereditary pancreatitis 2022-03-08 criteria provided, single submitter curation

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