ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.306G>A (p.Trp102Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Heidelberg University RCV004820975 SCV005441785 likely pathogenic RFT1-congenital disorder of glycosylation 2021-03-16 criteria provided, single submitter clinical testing The heterozygous variant has been identified in cis.

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