ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)

gnomAD frequency: 0.00052  dbSNP: rs367905297
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000177902 SCV000229861 uncertain significance not provided 2015-05-28 criteria provided, single submitter clinical testing
Invitae RCV000177902 SCV001018513 benign not provided 2021-09-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000177902 SCV001748419 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000177902 SCV001942265 benign not provided 2020-01-24 criteria provided, single submitter clinical testing

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