ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala)

gnomAD frequency: 0.97670  dbSNP: rs1617510
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517847 SCV001726432 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001619921 SCV001843331 benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730784 SCV001980971 benign Joubert syndrome 23 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730785 SCV001980972 benign Short-rib thoracic dysplasia 14 with polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619921 SCV005296995 benign not provided criteria provided, single submitter not provided

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