ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys)

dbSNP: rs913477149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences RCV000590856 SCV000693882 likely pathogenic RFT1-congenital disorder of glycosylation 2017-07-15 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000590856 SCV000746182 likely pathogenic RFT1-congenital disorder of glycosylation 2017-11-23 no assertion criteria provided clinical testing

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