ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.2060-3T>C

gnomAD frequency: 0.01209  dbSNP: rs17094553
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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 RCV000541397 SCV000655658 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001692193 SCV001909284 benign not provided 2019-12-20 criteria provided, single submitter clinical testing

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