ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.*72A>G

gnomAD frequency: 0.00006  dbSNP: rs761043925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000322057 SCV000358672 uncertain significance PGM1-congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358182 SCV000358673 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing

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