ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.855+4A>G

gnomAD frequency: 0.00004  dbSNP: rs138001923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351781 SCV000332666 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
Invitae RCV001087054 SCV001009945 likely benign Primary ciliary dyskinesia 2023-06-26 criteria provided, single submitter clinical testing

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