ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.243T>C (p.Ser81=)

gnomAD frequency: 0.11192  dbSNP: rs475667
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116647 SCV000314744 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001511301 SCV001718519 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001511301 SCV001946378 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116647 SCV000150611 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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