ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.65G>A (p.Gly22Asp)

gnomAD frequency: 0.00011  dbSNP: rs755151662
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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 RCV000952390 SCV001098890 likely benign Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2023-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738102 SCV005351201 likely benign MSX1-related disorder 2024-03-12 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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