ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.907T>A (p.Tyr303Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285208 SCV002574958 likely pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2022-09-16 criteria provided, single submitter clinical testing

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