ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.1165G>A (p.Val389Met)

dbSNP: rs2142725866
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001376042 SCV001573057 uncertain significance ALG1-congenital disorder of glycosylation 2019-08-22 criteria provided, single submitter clinical testing

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