ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.397-15dup

dbSNP: rs199717920
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000383642 SCV000448578 uncertain significance Short rib-polydactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001691996 SCV001907441 benign not provided 2019-08-11 criteria provided, single submitter clinical testing
Invitae RCV002057923 SCV002379338 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-25 criteria provided, single submitter clinical testing

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