ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.5390+10A>T

gnomAD frequency: 0.00133  dbSNP: rs181227407
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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) RCV000176922 SCV000228699 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing
Invitae RCV000176922 SCV001018604 benign not provided 2021-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000176922 SCV001903762 benign not provided 2020-06-01 criteria provided, single submitter clinical testing

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