ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.75G>T (p.Leu25=)

gnomAD frequency: 0.00022  dbSNP: rs765888738
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ClinVar version:
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 RCV000500041 SCV000593973 likely benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000879834 SCV001022887 benign not provided 2024-10-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000879834 SCV005219595 likely benign not provided criteria provided, single submitter not provided

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