ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.2553+11G>A

gnomAD frequency: 0.01083  dbSNP: rs78511804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522634 SCV001732214 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001566490 SCV001790015 likely benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001566490 SCV005212090 likely benign not provided criteria provided, single submitter not provided

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