ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.306C>T (p.Tyr102=)

gnomAD frequency: 0.00001  dbSNP: rs184769421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729255 SCV000856901 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001472600 SCV001676736 likely benign PMM2-congenital disorder of glycosylation 2023-08-30 criteria provided, single submitter clinical testing

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