ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=)

gnomAD frequency: 0.01047  dbSNP: rs10135645
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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 RCV000541630 SCV000655655 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001584342 SCV001821037 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001584342 SCV005212085 likely benign not provided criteria provided, single submitter not provided

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