ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3359A>T (p.Asp1120Val)

dbSNP: rs1970460175
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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 Munich, Klinikum Rechts Der Isar, TU München RCV001254125 SCV001430068 likely pathogenic Snijders Blok-Campeau syndrome 2020-06-16 criteria provided, single submitter clinical testing

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