ClinVar Miner

Submissions for variant NM_015312.3(KIAA1109):c.439C>T (p.Arg147Cys) (rs779054376)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626251 SCV000746904 uncertain significance ALKURAYA-KUCINSKAS SYNDROME 2017-12-18 criteria provided, single submitter clinical testing

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