ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1989+1G>A (rs745993158)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) RCV000578202 SCV000537859 likely pathogenic Kartagener syndrome 2017-03-13 no assertion criteria provided clinical testing Bioinformatic tools predict as potentialy pathogenic. We interpret as likely compound heterozygous since we found other variant in the same gene, CCDC40: NM_017950.3:c.2824_2825insCTGT

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