ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) (rs1800091)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000245320 SCV000603019 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000245320 SCV000331550 benign not specified 2016-07-06 criteria provided, single submitter clinical testing
Invitae RCV000007551 SCV000284995 benign Cystic fibrosis 2017-12-21 criteria provided, single submitter clinical testing
OMIM RCV000007551 SCV000027752 benign Cystic fibrosis 1990-10-01 no assertion criteria provided literature only
PreventionGenetics RCV000245320 SCV000304472 likely benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000245320 SCV000601048 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759754 SCV000889286 benign not provided 2016-12-05 criteria provided, single submitter clinical testing

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