ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1547_1548del (p.Arg516fs)

dbSNP: rs1562898489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249345 SCV002518673 pathogenic Hereditary pancreatitis 2022-05-04 criteria provided, single submitter clinical testing

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