ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=)

gnomAD frequency: 0.00314  dbSNP: rs61729923
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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 RCV000877850 SCV001020649 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001576253 SCV001803402 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001576253 SCV005212099 likely benign not provided criteria provided, single submitter not provided

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