ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.544dup (p.Ser182fs)

dbSNP: rs1584786454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeniaGeo, Laboratorio Genia RCV000855423 SCV000995022 pathogenic Cystic fibrosis 2019-10-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569799 SCV005057438 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-02-09 criteria provided, single submitter clinical testing

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