ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.-448A>G

gnomAD frequency: 0.00041  dbSNP: rs943663200
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506125 SCV000601123 uncertain significance not specified 2016-09-20 criteria provided, single submitter clinical testing
Counsyl RCV000666667 SCV000790996 uncertain significance Cystic fibrosis 2017-10-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731968 SCV000859842 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV000666667 SCV001681867 likely benign Cystic fibrosis 2022-10-29 criteria provided, single submitter clinical testing

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