ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.1632G>C (p.Glu544Asp)

gnomAD frequency: 0.00001  dbSNP: rs556429460
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522520 SCV001732084 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821840 SCV002066789 uncertain significance not specified 2018-04-27 criteria provided, single submitter clinical testing

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