ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del) (rs780942335)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514978 SCV000610599 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing
OMIM RCV000023889 SCV000045180 uncertain significance Joubert syndrome 2011-07-01 no assertion criteria provided literature only

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