ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4495+3795T>C

gnomAD frequency: 0.42605  dbSNP: rs28535751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515454 SCV001723535 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001673090 SCV001886191 benign not provided 2018-07-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673090 SCV005297050 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980537 SCV004798592 benign KIAA0586-related disorder 2023-08-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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