ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.613T>C (p.Tyr205His)

gnomAD frequency: 0.00001  dbSNP: rs754646068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001962395 SCV002216503 uncertain significance Immunodeficiency 23 2021-09-24 criteria provided, single submitter clinical testing

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