ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6000C>A (p.Tyr2000Ter) (rs773208371)

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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) RCV000578182 SCV000537861 likely pathogenic Kartagener syndrome 2017-03-13 no assertion criteria provided clinical testing We interpret this variant as compound heterozygote, since we found another likely pathogenic heterozygous variant in the same gene, DNAH5: c.4530delG

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