ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4136+5G>A

dbSNP: rs1584849005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009421 SCV001169367 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV001009421 SCV001199723 uncertain significance Cystic fibrosis 2021-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832329 SCV002075939 uncertain significance CFTR-related disorders 2021-01-29 no assertion criteria provided clinical testing

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