ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.535G>A (p.Glu179Lys)

dbSNP: rs2147468779
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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002211055 SCV002496431 uncertain significance X-linked Opitz G/BBB syndrome 2022-03-23 criteria provided, single submitter clinical testing PM2

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