ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.267-9C>G

gnomAD frequency: 0.00003  dbSNP: rs1396877928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002200888 SCV002488834 likely benign RFT1-congenital disorder of glycosylation 2024-12-07 criteria provided, single submitter clinical testing

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