ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.732C>T (p.Ser244=)

gnomAD frequency: 0.00230  dbSNP: rs61734550
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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 RCV000639620 SCV000761199 benign Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533340 SCV004751256 benign MEIS2-related disorder 2021-02-03 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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