ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.*198C>T

gnomAD frequency: 0.18377  dbSNP: rs10909
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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 RCV000319415 SCV000358678 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373952 SCV000358679 likely benign PGM1-congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711890 SCV001944220 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711890 SCV005258536 likely benign not provided criteria provided, single submitter not provided

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