ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1464C>T (p.Tyr488=)

gnomAD frequency: 0.01824  dbSNP: rs34873318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553489 SCV000655101 benign Immunodeficiency 23 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001619789 SCV001843793 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915628 SCV004729269 benign PGM3-related disorder 2019-07-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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