ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)

gnomAD frequency: 0.00010  dbSNP: rs587780310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116663 SCV000150627 uncertain significance not provided 2013-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764815 SCV000895966 uncertain significance Maturity-onset diabetes of the young type 8 2018-10-31 criteria provided, single submitter clinical testing

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