ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.1659C>G (p.Thr553=)

dbSNP: rs78256304
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001709429 SCV001937540 benign not provided 2020-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496038 SCV002795979 benign Maturity-onset diabetes of the young type 8 2021-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709429 SCV005317492 benign not provided criteria provided, single submitter not provided

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