ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.99G>C (p.Val33=)

dbSNP: rs199971842
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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 RCV001819595 SCV002072367 likely benign not specified 2019-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482361 SCV002800420 likely benign Maturity-onset diabetes of the young type 8 2021-11-13 criteria provided, single submitter clinical testing

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