ClinVar Miner

Submissions for variant NM_178862.3(STT3B):c.619A>G (p.Ile207Val)

gnomAD frequency: 0.00001  dbSNP: rs780102016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626086 SCV000746711 uncertain significance STT3B-congenital disorder of glycosylation 2017-12-18 criteria provided, single submitter clinical testing

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