ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1332G>A (p.Thr444=)

gnomAD frequency: 0.00012  dbSNP: rs139487607
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
Invitae RCV000945712 SCV001091757 likely benign RFT1-congenital disorder of glycosylation 2024-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438612 SCV004150334 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing RFT1: BP4, BP7

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