ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2055A>G (p.Gln685=) (rs1457520634)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734865 SCV000863043 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000734865 SCV000883593 likely benign not provided 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV001400577 SCV001602382 likely benign Cystic fibrosis 2020-06-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001400577 SCV001822095 likely benign Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing

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