ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.1025C>G (p.Ser342Ter)

dbSNP: rs2141225080
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244273 SCV002512701 likely pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2021-07-15 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate

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