ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile)

gnomAD frequency: 0.00313  dbSNP: rs61742715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526654 SCV000655657 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001548520 SCV001768447 likely benign not provided 2022-12-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV001548520 SCV004701830 benign not provided 2023-12-01 criteria provided, single submitter clinical testing KIAA0586: BP4, BS1, BS2

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