ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.821A>G (p.Asp274Gly)

gnomAD frequency: 0.00004  dbSNP: rs781066087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887731 SCV001031310 likely benign RFT1-congenital disorder of glycosylation 2023-11-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000887731 SCV001527285 uncertain significance RFT1-congenital disorder of glycosylation 2018-02-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003975595 SCV004795476 likely benign RFT1-related condition 2022-03-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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