ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.640-28C>G

dbSNP: rs181837170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556993 SCV001778678 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832759 SCV002092445 benign PMM2-congenital disorder of glycosylation 2019-10-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003921215 SCV004731103 benign PMM2-related disorder 2019-03-21 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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