ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.977+2T>G

dbSNP: rs2141389679
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706930 SCV001934521 pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2020-09-14 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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