ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.1472G>A (p.Ser491Asn)

gnomAD frequency: 0.00536  dbSNP: rs146199695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500308 SCV000593982 benign not specified 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000884097 SCV001027453 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758026 SCV005350189 benign CDT1-related disorder 2024-08-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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