ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)

gnomAD frequency: 0.00129  dbSNP: rs183168709
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954008 SCV001100610 likely benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001559430 SCV001781653 likely benign not provided 2021-07-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001559430 SCV003812108 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925991 SCV004740077 likely benign KIAA0586-related condition 2022-03-06 criteria provided, single submitter 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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