ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) (rs397508422)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000757863 SCV000886375 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
CFTR-France RCV001009376 SCV001169229 pathogenic Cystic fibrosis; CFTR-related disorders 2018-01-29 criteria provided, single submitter curation when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD
Nilou-Genome Lab RCV000757863 SCV001822117 uncertain significance Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing

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