ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.267-20A>T

gnomAD frequency: 0.05900  dbSNP: rs73840213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430041 SCV000517821 benign not specified 2016-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511610 SCV001718885 benign RFT1-congenital disorder of glycosylation 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716433 SCV005298970 benign not provided criteria provided, single submitter not provided

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