ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.916G>A (p.Glu306Lys)

dbSNP: rs2141389824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002259528 SCV002538891 likely pathogenic not provided 2022-03-29 criteria provided, single submitter clinical testing Identified as de novo in an individual with congenital diaphragmatic hernia in published literature, but this patient, who also harbored a de novo variant in another gene, was not reported to have other clinical features (Qiao et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32719394)
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003101438 SCV003035371 likely pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2022-11-15 criteria provided, single submitter clinical testing

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