ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1717-4A>G

gnomAD frequency: 0.00043  dbSNP: rs191933523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000734141 SCV000862259 likely benign not specified 2018-07-12 criteria provided, single submitter clinical testing
Invitae RCV000919356 SCV001064700 benign not provided 2018-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000919356 SCV001915046 benign not provided 2021-05-03 criteria provided, single submitter clinical testing

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