ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3305-8dup

dbSNP: rs5808973
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517848 SCV001726433 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001655766 SCV001862033 benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730786 SCV001980973 benign Joubert syndrome 23 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730787 SCV001980974 benign Short-rib thoracic dysplasia 14 with polydactyly 2021-08-19 criteria provided, single submitter clinical testing

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