ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.2906G>T (p.Arg969Leu)

dbSNP: rs2148891008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004584926 SCV005074876 likely pathogenic not provided 2024-06-01 criteria provided, single submitter clinical testing MECOM: PM1, PM2, PM5, PP1, PP2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV002266023 SCV002060429 likely pathogenic Radioulnar synostosis 2022-01-04 no assertion criteria provided research

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