ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)

gnomAD frequency: 0.00003  dbSNP: rs121909040
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000007637 SCV000886364 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
CFTR-France RCV000007637 SCV001169363 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV000007637 SCV001505750 uncertain significance Cystic fibrosis 2021-09-01 criteria provided, single submitter clinical testing
OMIM RCV000007637 SCV000027838 pathogenic Cystic fibrosis 1994-07-01 no assertion criteria provided literature only

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