ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.914C>A (p.Ala305Asp)

gnomAD frequency: 0.00001  dbSNP: rs373514167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624157 SCV000742229 uncertain significance Inborn genetic diseases 2017-02-07 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001543408 SCV001761966 pathogenic ALG3-congenital disorder of glycosylation no assertion criteria provided research

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