ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.5262-17T>C

gnomAD frequency: 0.88773  dbSNP: rs4239111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579014 SCV001806402 benign Snijders Blok-Campeau syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV002221633 SCV002498841 benign not provided 2022-04-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002221633 SCV005251552 benign not provided criteria provided, single submitter not provided

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