ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.408C>T (p.Cys136=)

gnomAD frequency: 0.00001  dbSNP: rs371694616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513368 SCV000608748 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060175 SCV002390647 likely benign PMM2-congenital disorder of glycosylation 2024-01-28 criteria provided, single submitter clinical testing

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