ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.149+16C>G

dbSNP: rs201161797
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002145331 SCV002429054 likely benign RFT1-congenital disorder of glycosylation 2021-04-10 criteria provided, single submitter clinical testing

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