ClinVar Miner

Submissions for variant NM_005660.3(SLC35A2):c.989T>C (p.Leu330Pro)

dbSNP: rs2063477376
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001289474 SCV001477308 likely pathogenic SLC35A2-congenital disorder of glycosylation 2020-11-25 criteria provided, single submitter clinical testing

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