ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) (rs193922533)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029550 SCV000052202 likely pathogenic Cystic fibrosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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