ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2832+20G>A

gnomAD frequency: 0.00516  dbSNP: rs78493584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247874 SCV000313088 benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058280 SCV002451973 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV002225568 SCV002504036 likely benign not provided 2020-12-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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