ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser)

gnomAD frequency: 0.01118  dbSNP: rs190271845
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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 RCV000559135 SCV000655665 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001536821 SCV001753631 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536821 SCV005212096 likely benign not provided criteria provided, single submitter not provided

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