ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.339G>A (p.Pro113=)

gnomAD frequency: 0.00006  dbSNP: rs149849259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000299234 SCV000339687 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078675 SCV001079792 likely benign PMM2-congenital disorder of glycosylation 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001078675 SCV001457169 likely benign PMM2-congenital disorder of glycosylation 2020-09-16 no assertion criteria provided clinical testing

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