ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.507T>C (p.Asp169=)

gnomAD frequency: 0.00168  dbSNP: rs139184400
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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 RCV000639622 SCV000761201 benign Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2025-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544846 SCV004767115 benign MEIS2-related disorder 2019-07-15 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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