ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) (rs202213517)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858744 SCV000261945 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204755 SCV000479747 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000754880 SCV000778477 likely pathogenic Kartagener syndrome 2018-05-28 no assertion criteria provided research

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