ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4496-16C>T

gnomAD frequency: 0.00195  dbSNP: rs111487478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520699 SCV001729871 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716737 SCV005297072 benign not provided criteria provided, single submitter not provided

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