ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.49G>A (p.Gly17Ser)

gnomAD frequency: 0.00004  dbSNP: rs754789827
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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 RCV002206890 SCV002368461 benign Cranium bifidum occultum 2023-06-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950948 SCV004763879 likely benign MSX2-related disorder 2021-10-18 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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