ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.699G>A (p.Ala233=)

gnomAD frequency: 0.00003  dbSNP: rs375881270
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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 RCV000944482 SCV001090452 likely benign PMM2-congenital disorder of glycosylation 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944482 SCV002092451 likely benign PMM2-congenital disorder of glycosylation 2020-02-21 no assertion criteria provided clinical testing

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