ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.999G>A (p.Pro333=)

gnomAD frequency: 0.00010  dbSNP: rs202026460
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 RCV000983494 SCV001131517 likely benign not provided 2023-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503140 SCV002807812 likely benign Meier-Gorlin syndrome 4 2022-01-06 criteria provided, single submitter clinical testing

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