ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.784A>G (p.Thr262Ala)

gnomAD frequency: 0.49695  dbSNP: rs480727
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116654 SCV000314747 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523130 SCV001732793 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579289 SCV001806767 benign Meier-Gorlin syndrome 4 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001523130 SCV001937697 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523130 SCV005252535 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116654 SCV000150618 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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