ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.573G>A (p.Ser191=)

gnomAD frequency: 0.00373  dbSNP: rs112502842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703663 SCV000520693 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Invitae RCV000647743 SCV000769544 benign PGM1-congenital disorder of glycosylation 2024-01-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821168 SCV002071669 benign not specified 2019-05-08 criteria provided, single submitter clinical testing

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