ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)

gnomAD frequency: 0.97574  dbSNP: rs1748986
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989234 SCV001139470 benign Joubert syndrome 23 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517846 SCV001726431 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001725206 SCV001960241 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989234 SCV001980969 benign Joubert syndrome 23 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730744 SCV001980970 benign Short-rib thoracic dysplasia 14 with polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725206 SCV005296961 benign not provided criteria provided, single submitter not provided

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