ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.54_164del111

dbSNP: rs1562882675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000785759 SCV000245927 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Mendelics RCV000785759 SCV000924325 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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