ClinVar Miner

Submissions for variant NM_177433.3(MAGED2):c.1431G>A (p.Glu477=)

gnomAD frequency: 0.00019  dbSNP: rs751416614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915183 SCV001060381 benign not provided 2018-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913058 SCV004736029 likely benign MAGED2-related disorder 2019-05-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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