ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.*37G>A

gnomAD frequency: 0.02669  dbSNP: rs61765314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000362631 SCV000358670 likely benign PGM1-congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271623 SCV000358671 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711887 SCV001944455 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711887 SCV005258533 likely benign not provided criteria provided, single submitter not provided

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