ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser)

gnomAD frequency: 0.00003  dbSNP: rs72654338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393349 SCV000334150 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000393349 SCV004227542 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing PP3, PS3_moderate, PS4_moderate
OMIM RCV000009388 SCV000029606 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2005-11-15 no assertion criteria provided literature only

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