ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln)

dbSNP: rs1555611692
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585331 SCV000692890 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266354 SCV001444528 uncertain significance Inborn genetic diseases 2014-11-05 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV001376041 SCV001573056 likely pathogenic Snijders Blok-Campeau syndrome 2019-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000585331 SCV001794413 pathogenic not provided 2020-08-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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