ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.738C>G (p.Ser246=)

gnomAD frequency: 0.00005  dbSNP: rs373888957
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243450 SCV001416610 likely benign PMM2-congenital disorder of glycosylation 2023-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001243450 SCV002092456 uncertain significance PMM2-congenital disorder of glycosylation 2020-01-31 no assertion criteria provided clinical testing

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