ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.1377C>T (p.Arg459=)

dbSNP: rs3218730
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116641 SCV000314741 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520643 SCV001729797 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001520643 SCV001835080 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520643 SCV005252545 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116641 SCV000150605 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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