ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4092G>A (p.Ala1364=) (rs148878126)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755923 SCV000883594 likely benign not provided 2017-06-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029538 SCV000052190 likely benign Cystic fibrosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000029538 SCV000625749 likely benign Cystic fibrosis 2017-06-20 criteria provided, single submitter clinical testing

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