ClinVar Miner

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

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 RCV000264380 SCV000448579 likely benign Short rib-polydactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683386 SCV001901769 benign not provided 2019-08-23 criteria provided, single submitter clinical testing
Invitae RCV002061244 SCV002328127 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-19 criteria provided, single submitter clinical testing

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