ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=)

gnomAD frequency: 0.00128  dbSNP: rs148016417
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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 RCV000951582 SCV001097995 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001557107 SCV001778808 likely benign not provided 2020-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925945 SCV004740475 likely benign KIAA0586-related disorder 2019-09-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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