ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.4530del (p.Asn1511fs) (rs1554082275)

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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) RCV000578159 SCV000579338 likely pathogenic Kartagener syndrome no assertion criteria provided research We interpret as likely compound heterozygous since we found another potential pathogenic variant in the same gene (also submitted to ClinVar: NM_001369.2:c.6000C>A)

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