ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.129G>A (p.Val43=)

dbSNP: rs777608895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278416 SCV001708349 likely benign PMM2-congenital disorder of glycosylation 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278416 SCV001465429 uncertain significance PMM2-congenital disorder of glycosylation 2020-08-13 no assertion criteria provided clinical testing

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