ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=)

gnomAD frequency: 0.00005  dbSNP: rs199982600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521880 SCV001731299 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966133 SCV004784689 likely benign KIAA0586-related disorder 2021-11-29 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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