ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys)

gnomAD frequency: 0.00015  dbSNP: rs147844088
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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 RCV001519842 SCV001728788 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2023-12-29 criteria provided, single submitter clinical testing
GeneDx RCV004773207 SCV005386022 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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