ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.580-2A>C

dbSNP: rs193922730
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000757810 SCV000886286 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465677 SCV004215767 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2022-09-14 criteria provided, single submitter clinical testing

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