ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.1179G>C (p.Gly393=)

gnomAD frequency: 0.01762  dbSNP: rs74035837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959333 SCV001106234 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000959333 SCV001867951 benign not provided 2018-10-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116638 SCV000150602 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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