ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.5796_5800dup (p.Ala1934fs)

dbSNP: rs2151687226
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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 RCV001843852 SCV002103035 likely pathogenic Snijders Blok-Campeau syndrome 2022-02-04 criteria provided, single submitter clinical testing PVS1, PM2

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