ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1103-24T>C

gnomAD frequency: 0.50896  dbSNP: rs2581829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001667278 SCV001888859 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796676 SCV002033581 benign RFT1-congenital disorder of glycosylation 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001667278 SCV005298904 benign not provided criteria provided, single submitter not provided

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